Visit comscience.eu : The significance of the debate about what constitutes a disease is underscored by the two broad questions which underlay the current debate: Who decides whether or not testing is done; and what happens to that information? Clearly genetic screening is going to be done. The question is how are we going to use it and what social limit will we put on it? There is an apparent discrepancy between the reality of genetic variability and the democratic ideal that all citizens are "created equal." (also see www.eusem.com)

Genetic Screening
Visit our website: http://www.sliderbase.com/
Free PowerPoint Presentations for teaching and learning
What is genetic screening?
One of the fastest moving fields in medical science.
A technique to determine the genotype or phenotype of an organism.
It is often used to detect faulty or abnormal genes in an organism.
Some examples of genetic tests
Prenatal screeningNewborn screeningCarrier screening
This can detect a disorder before a baby is born.
An ultrasound test is used to determine if the fetus is at a high or low risk from a genetic disorder.
Disorders are diagnosed by examining a small amount of fetal cells. This carries a small risk to the fetus.
If diagnosed early in the pregnancy, there is still the possibility of abortion.
Prenatal screening is sometimes seen as controversial.
Newborns are tested for diseases and early diagnoses allows for immediate treatment.
A blood sample is tested for genetic disorders.
In most of the USA, newborn screening is mandatory, unless parents have a religious objection to it.
Sometimes residual blood samples are used for genetic research, as long as the samples are kept anonymous.
Preimplantation screening: Screening embryos fertilised by IVF before they are implanted into the uterus.
Presymptomatic screening: Screening to predict adult-onset diseases such as Huntington’s disease.
Presymptomatic screening: Screening to estimate the risk of developing cancer or Alzheimer’s disease as an adult.
Forensic/Identity testing: Screening to eg. determine the father of an individual (paternity test).

published:08 Feb 2016

views:2959

Functional genomics attempts to understand the genome by disrupting the flow of information from DNA to RNA to protein and then observing how the cell or organism changes in response. Both RNAi and CRISPR technologies are simply hacks of systems that originally evolved to silence viruses, reprogrammed to target genes we’re interested in studying, as decoding the function of genes is a critical step towards understanding how gene dysfunction leads to disease. Here we will discuss the development and optimization of CRISPR technology for genome-wide genetic screens and its application to multiple biological problems.

published:12 Jul 2016

views:973

Part 1: Vertebrate OrganDevelopment: The Zebrafish Heart: Zebrafish heart development requires the orchestration of cell proliferation, differentiation, and movement. How is this complex process regulated?
Part 2: Cardiac Trabeculation: Trabeculae are muscular ridges that form in the heart ventricle and allow it to pump more forcefully. What controls the localization and development of these structures?
Part 3: GeneticCompensation: Stainier explains why gene mutation via antisense oligos may result in a more severe phenotype than mutation via CRISPR-Cas9 or other gene editing tools.
https://www.ibiology.org/ibioseminars/genetic-compensation.htmlTalk Overview:
How does a fertilized egg develop into a complex multicellular organism such as a fly, mouse or human? During zebrafish heart development, for example, cells must proliferate, differentiate, move and come together to form a complex organ. Didier Stainier explains that zebrafish are an excellent model organism in which to address this question because their eggs are externally fertilized, they produce many offspring and the embryos and larvae are translucent. In addition, specific cells can be fluorescently labelled making it easier to image organ development in live fish. Taking advantage of these characteristics, Stainier and his colleagues performed large forward genetic screens to look for mutants in zebrafish heart development. Their findings provide insight into the evolution and development of the vertebrate heart.
In his second lecture, Stainier describes work from his lab investigating the formation of trabeculae in zebrafish hearts. Trabeculae are multicellular protrusions into the lumen of the ventricle that allow the heart to increase in muscle mass and thus pump more forcefully. Interestingly, trabeculae form only in the ventricle, not in the atrium, and only on the outer curvature of the ventricular lumen. For trabeculae to form, cardiomyocytes must delaminate from the outer layer of muscle cells and proliferate in the lumen. Stainier discusses how his lab identified factors regulating this process including the important roles of blood flow and contractility.
Genefunction in zebrafish has been investigated by 1) randomly mutagenizing the genome, 2) knocking down genes with antisense oligos or 3) more recently, by specifically mutating a gene of interest with gene editing tools. Interestingly, phenotypes obtained by antisense knockdown are often more severe or different than those obtained by gene knockout. In his last lecture, Stainier presents work from his lab that compares knockdown vs knockout of the egfl7 gene in zebrafish (causing severe vs mild vascular defects) and asks why this difference in phenotypes occurs. He walks us through the experiments which show that in the case of egfl7, and numerous other genes, gene knockout effects are compensated by upregulated transcription of paralogous or related genes. This finding raises many questions about how this phenomenon occurs and Stainier’s group continues to investigate this and related questions.
Speaker Biography:
Dr. Didier Stainier is a Director (Principal Investigator) in the Department of Developmental Genetics at the Max Planck Institute for Heart and Lung Research (MPI-HLR), in Bad Nauheim, Germany. His lab uses the zebrafish as a model to study development of the cardiovascular system and pancreas, and the mouse as a model for lung development. Prior to moving to the MPI-HLR, Stainier was Professor of Biochemistry and Biophysics at the University of California, San Francisco from 1995-2012.
Stainier received his PhD in Biochemistry and Molecular Biology from Harvard University where he worked in Wally Gilbert’s lab. As a post-doctoral fellow, Stainier moved to Mark Fishman’s lab at Massachusetts General Hospital where he initiated the studies on zebrafish cardiovascular development and function. Stainier was one of many scientists in Boston and Tübingen who carried out a huge screen for zebrafish mutants in early development and organogenesis. The screen was published in Development in 1996 and remains a useful resource to this day for labs studying fish. Stainier has since published over 200 papers on zebrafish development.
Learn more about Stainier’s research here:
http://www.mpi-hlr.de/en/forschung/dept-iii.html

published:25 Jul 2017

views:808

Lecture on blue white screening lacZ of DNA clones after cloning.
http://shomusbiology.weebly.com/
Download the study materials here-
http://shomusbiology.weebly.com/bio-materials.html
The blue-white screen is a screening technique that allows for the rapid and convenient detection of recombinant bacteria in vector-based molecular cloning experiments. DNA of interest is ligated into a vector. The vector is then transformed into competent cell (bacteria), and the competent cells are grown in the presence of X-gal. Cells transformed with vectors containing recombinant DNA will produce white colonies; cells transformed with non-recombinant plasmids (i.e. only the vector) grow into blue colonies.
β-galactosidase is a protein encoded by the lacZ gene of the lac operon, and it exists as a homotetramer in its active state. However, a mutant β-galactosidase derived from the M15 strain of E. coli has its N-terminal residues 11—41 deleted and this mutant, the ω-peptide, is unable to form a tetramer and is inactive. This mutant form of protein however may return fully to its active tetrameric state in the presence of an N-terminal fragment of the protein, the α-peptide. The rescue of function of the mutant β-galactosidase by the α-peptide is called α-complementation.
In this method of screening, the host E. coli strain carries the lacZ deletion mutant (lacZΔM15} which contains the ω-peptide, while the plasmids used carry the lacZα sequence which encodes the first 59 residues of β-galactosidase, the α-peptide. Neither are functional by themselves. However, when the two peptides are expressed together, as when a plasmid containing the lacZα sequence is transformed into a lacZΔM15 cells, they form a functional β-galactosidase enzyme.
The blue/white screening method works by disrupting this α-complementation process. The plasmid carries within the lacZα sequence an internal multiple cloning site (MCS). This MCS within the lacZα sequence can be cut by restriction enzymes so that the foreign DNA may be inserted within the lacZα gene, thereby disrupting the gene and thus production of α-peptide. Consequently, in cells containing the plasmid with an insert, no functional β-galactosidase may be formed.
The presence of an active β-galactosidase can be detected by X-gal, a colourless analog of lactose that may be cleaved by β-galactosidase to form 5-bromo-4-chloro-indoxyl, which then spontaneously dimerizes and oxidizes to form a bright blue insoluble pigment 5,5'-dibromo-4,4'-dichloro-indigo. This results in a characteristic blue colour in cells containing a functional β-galactosidase. Blue colonies therefore show that they may contain a vector with an uninterrupted lacZα (therefore no insert), while white colonies, where X-gal is not hydrolyzed, indicate the presence of an insert in lacZα which disrupts the formation of an active β-galactosidase. Source of the article published in description is Wikipedia. I am sharing their material. Copyright by original content developers of Wikipedia.
Link- http://en.wikipedia.org/wiki/Main_Page

published:25 Oct 2013

views:75104

What isGenetic Screening?
Genetic screening is performing tests on a pregnant woman to help determine if the baby she is carrying may have Down syndrome or other birth defects.
Who should have genetic screening?
All pregnant women should be offered genetic screening. It helps parents prepare for a child with special needs.
What are the genetic screens and how are they performed?
Currently the three most common tests are the first trimester screen, the quad screen and the sequential screen. The first trimester screen is usually done between 10 and 13 weeks and involves both an ultrasound and a blood draw, usually taken from your finger. The quad screen is typically done between 15 and 20 weeks, this involves a blood draw taken from your arm.The sequential screen involves two parts. The first part involves an ultrasound between 10 and 13 weeks and a blood draw from your finger. This is followed by a second blood draw done between 15 and 20 weeks.
When can I expect the results?
The results from all the tests take about three to five days. With the sequential screen you will get a preliminary and final result. A low risk result reassures the family their baby is not affected with Down syndrome, 99.97 percent of the time. A high risk result identifies the pregnancies where further testing and evalution is recommended. In addition to screening for Down syndrome, these tests can help identify babies who may have other chromosomal defects or other structural defects like Spina Bifida. If any of the blood tests identify the pregnancy as high risk for birth anomalies, further screening will be recommended, followed by a higher level ultrasound and in some cases amniocentesis.
What are the risks of genetic screenings?
With the blood draw and ultrasound there is no risk. When the amniocentesis is performed by a specialist, the risk is minimal.
RelatedLinks:
Women's Healthhttp://www.alegentcreighton.com/womens
Women's Health Specialists
http://www.alegentcreighton.com/
Dr. Michael Barsoom
http://www.alegentcreighton.com/Barsoom

Fifteen years after the completion of Human Genome Project, the function of many human genes remains elusive. One major obstacle for the study of human genes is the diploid nature of the genome: Inactivation of one allele is often insufficient to elicit a phenotype because the second (wild-type) allele can maintain gene function. Recently, near-haploid somatic cells were isolated from human patients and taken into culture. Insertional mutagenesis in these cells enables unbiased “yeast-like” genetic screening in human cells. Screens conducted so far have revealed host factors of viruses, elucidated the mechanism of action of bacterial toxins and uncovered the genes defective in rare inherited diseases. At Horizon Discovery, we employ haploid genetic screening to uncover the mechanism of action of drugs. The webinar will highlight the prerequisites of such genetic screens, show some examples of how they perform and discuss possible pitfalls.

published:10 Sep 2015

views:308

http://ibiomagazine.org/issues/march-2011-issue/eric-wieschaus.htmlEric Wieschaus and Christiane Nusslein-Volhard wanted to understand which genes regulated embryonic development in Drosophila. It took them 2 years to design their experiment and only a few months to execute. A combination of good design and good luck allowed them to start with 40,000 flies and identify just 139 genes necessary for embryonic development.

Genetic screen

A genetic screen is an experimental technique used to identify and select for individuals who possess a phenotype of interest in a mutagenized population. Hence a genetic screen is a type of phenotypic screen. Genetic screens can provide important information on gene function as well as the molecular events that underlie a biological process or pathway. While genome projects have identified an extensive inventory of genes in many different organisms, genetic screens can provide valuable insight as to how those genes function.

Basic Screening

Forward genetics (or a forward genetic screen) is an approach used to identify genes (or set of genes) responsible for a particular phenotype of an organism. Reverse genetics (or a reverse genetic screen), on the other hand, analyzes the phenotype of an organism following the disruption of a known gene. In short, forward genetics starts with a phenotype and moves towards identifying the gene(s) responsible, where as reverse genetics starts with a known gene and assays the effect of its disruption by analyzing the resultant phenotypes. Both forward and reverse genetic screens aim to determine gene function.

Genetic screen

7:02

Genetic Screening

Genetic Screening

Genetic Screening

Visit comscience.eu : The significance of the debate about what constitutes a disease is underscored by the two broad questions which underlay the current debate: Who decides whether or not testing is done; and what happens to that information? Clearly genetic screening is going to be done. The question is how are we going to use it and what social limit will we put on it? There is an apparent discrepancy between the reality of genetic variability and the democratic ideal that all citizens are "created equal." (also see www.eusem.com)

Genetic Screening

Genetic Screening
Visit our website: http://www.sliderbase.com/
Free PowerPoint Presentations for teaching and learning
What is genetic screening?
One of the fastest moving fields in medical science.
A technique to determine the genotype or phenotype of an organism.
It is often used to detect faulty or abnormal genes in an organism.
Some examples of genetic tests
Prenatal screeningNewborn screeningCarrier screening
This can detect a disorder before a baby is born.
An ultrasound test is used to determine if the fetus is at a high or low risk from a genetic disorder.
Disorders are diagnosed by examining a small amount of fetal cells. This carries a small risk to the fetus.
If diagnosed early in the pregnancy, there is still the possibility of abortion.
Prenatal screening is sometimes seen as controversial.
Newborns are tested for diseases and early diagnoses allows for immediate treatment.
A blood sample is tested for genetic disorders.
In most of the USA, newborn screening is mandatory, unless parents have a religious objection to it.
Sometimes residual blood samples are used for genetic research, as long as the samples are kept anonymous.
Preimplantation screening: Screening embryos fertilised by IVF before they are implanted into the uterus.
Presymptomatic screening: Screening to predict adult-onset diseases such as Huntington’s disease.
Presymptomatic screening: Screening to estimate the risk of developing cancer or Alzheimer’s disease as an adult.
Forensic/Identity testing: Screening to eg. determine the father of an individual (paternity test).

46:41

Genetic Screens with CRISPR: A New Hope in Functional Genomics

Genetic Screens with CRISPR: A New Hope in Functional Genomics

Genetic Screens with CRISPR: A New Hope in Functional Genomics

Functional genomics attempts to understand the genome by disrupting the flow of information from DNA to RNA to protein and then observing how the cell or organism changes in response. Both RNAi and CRISPR technologies are simply hacks of systems that originally evolved to silence viruses, reprogrammed to target genes we’re interested in studying, as decoding the function of genes is a critical step towards understanding how gene dysfunction leads to disease. Here we will discuss the development and optimization of CRISPR technology for genome-wide genetic screens and its application to multiple biological problems.

27:07

Didier Stainier (MPI) 3: Genetic Compensation

Didier Stainier (MPI) 3: Genetic Compensation

Didier Stainier (MPI) 3: Genetic Compensation

Part 1: Vertebrate OrganDevelopment: The Zebrafish Heart: Zebrafish heart development requires the orchestration of cell proliferation, differentiation, and movement. How is this complex process regulated?
Part 2: Cardiac Trabeculation: Trabeculae are muscular ridges that form in the heart ventricle and allow it to pump more forcefully. What controls the localization and development of these structures?
Part 3: GeneticCompensation: Stainier explains why gene mutation via antisense oligos may result in a more severe phenotype than mutation via CRISPR-Cas9 or other gene editing tools.
https://www.ibiology.org/ibioseminars/genetic-compensation.htmlTalk Overview:
How does a fertilized egg develop into a complex multicellular organism such as a fly, mouse or human? During zebrafish heart development, for example, cells must proliferate, differentiate, move and come together to form a complex organ. Didier Stainier explains that zebrafish are an excellent model organism in which to address this question because their eggs are externally fertilized, they produce many offspring and the embryos and larvae are translucent. In addition, specific cells can be fluorescently labelled making it easier to image organ development in live fish. Taking advantage of these characteristics, Stainier and his colleagues performed large forward genetic screens to look for mutants in zebrafish heart development. Their findings provide insight into the evolution and development of the vertebrate heart.
In his second lecture, Stainier describes work from his lab investigating the formation of trabeculae in zebrafish hearts. Trabeculae are multicellular protrusions into the lumen of the ventricle that allow the heart to increase in muscle mass and thus pump more forcefully. Interestingly, trabeculae form only in the ventricle, not in the atrium, and only on the outer curvature of the ventricular lumen. For trabeculae to form, cardiomyocytes must delaminate from the outer layer of muscle cells and proliferate in the lumen. Stainier discusses how his lab identified factors regulating this process including the important roles of blood flow and contractility.
Genefunction in zebrafish has been investigated by 1) randomly mutagenizing the genome, 2) knocking down genes with antisense oligos or 3) more recently, by specifically mutating a gene of interest with gene editing tools. Interestingly, phenotypes obtained by antisense knockdown are often more severe or different than those obtained by gene knockout. In his last lecture, Stainier presents work from his lab that compares knockdown vs knockout of the egfl7 gene in zebrafish (causing severe vs mild vascular defects) and asks why this difference in phenotypes occurs. He walks us through the experiments which show that in the case of egfl7, and numerous other genes, gene knockout effects are compensated by upregulated transcription of paralogous or related genes. This finding raises many questions about how this phenomenon occurs and Stainier’s group continues to investigate this and related questions.
Speaker Biography:
Dr. Didier Stainier is a Director (Principal Investigator) in the Department of Developmental Genetics at the Max Planck Institute for Heart and Lung Research (MPI-HLR), in Bad Nauheim, Germany. His lab uses the zebrafish as a model to study development of the cardiovascular system and pancreas, and the mouse as a model for lung development. Prior to moving to the MPI-HLR, Stainier was Professor of Biochemistry and Biophysics at the University of California, San Francisco from 1995-2012.
Stainier received his PhD in Biochemistry and Molecular Biology from Harvard University where he worked in Wally Gilbert’s lab. As a post-doctoral fellow, Stainier moved to Mark Fishman’s lab at Massachusetts General Hospital where he initiated the studies on zebrafish cardiovascular development and function. Stainier was one of many scientists in Boston and Tübingen who carried out a huge screen for zebrafish mutants in early development and organogenesis. The screen was published in Development in 1996 and remains a useful resource to this day for labs studying fish. Stainier has since published over 200 papers on zebrafish development.
Learn more about Stainier’s research here:
http://www.mpi-hlr.de/en/forschung/dept-iii.html

3:35

Blue white screening of DNA clones

Blue white screening of DNA clones

Blue white screening of DNA clones

Lecture on blue white screening lacZ of DNA clones after cloning.
http://shomusbiology.weebly.com/
Download the study materials here-
http://shomusbiology.weebly.com/bio-materials.html
The blue-white screen is a screening technique that allows for the rapid and convenient detection of recombinant bacteria in vector-based molecular cloning experiments. DNA of interest is ligated into a vector. The vector is then transformed into competent cell (bacteria), and the competent cells are grown in the presence of X-gal. Cells transformed with vectors containing recombinant DNA will produce white colonies; cells transformed with non-recombinant plasmids (i.e. only the vector) grow into blue colonies.
β-galactosidase is a protein encoded by the lacZ gene of the lac operon, and it exists as a homotetramer in its active state. However, a mutant β-galactosidase derived from the M15 strain of E. coli has its N-terminal residues 11—41 deleted and this mutant, the ω-peptide, is unable to form a tetramer and is inactive. This mutant form of protein however may return fully to its active tetrameric state in the presence of an N-terminal fragment of the protein, the α-peptide. The rescue of function of the mutant β-galactosidase by the α-peptide is called α-complementation.
In this method of screening, the host E. coli strain carries the lacZ deletion mutant (lacZΔM15} which contains the ω-peptide, while the plasmids used carry the lacZα sequence which encodes the first 59 residues of β-galactosidase, the α-peptide. Neither are functional by themselves. However, when the two peptides are expressed together, as when a plasmid containing the lacZα sequence is transformed into a lacZΔM15 cells, they form a functional β-galactosidase enzyme.
The blue/white screening method works by disrupting this α-complementation process. The plasmid carries within the lacZα sequence an internal multiple cloning site (MCS). This MCS within the lacZα sequence can be cut by restriction enzymes so that the foreign DNA may be inserted within the lacZα gene, thereby disrupting the gene and thus production of α-peptide. Consequently, in cells containing the plasmid with an insert, no functional β-galactosidase may be formed.
The presence of an active β-galactosidase can be detected by X-gal, a colourless analog of lactose that may be cleaved by β-galactosidase to form 5-bromo-4-chloro-indoxyl, which then spontaneously dimerizes and oxidizes to form a bright blue insoluble pigment 5,5'-dibromo-4,4'-dichloro-indigo. This results in a characteristic blue colour in cells containing a functional β-galactosidase. Blue colonies therefore show that they may contain a vector with an uninterrupted lacZα (therefore no insert), while white colonies, where X-gal is not hydrolyzed, indicate the presence of an insert in lacZα which disrupts the formation of an active β-galactosidase. Source of the article published in description is Wikipedia. I am sharing their material. Copyright by original content developers of Wikipedia.
Link- http://en.wikipedia.org/wiki/Main_Page

2:21

Genetic Screening During Pregnancy - Alegent Creighton Health

Genetic Screening During Pregnancy - Alegent Creighton Health

Genetic Screening During Pregnancy - Alegent Creighton Health

What isGenetic Screening?
Genetic screening is performing tests on a pregnant woman to help determine if the baby she is carrying may have Down syndrome or other birth defects.
Who should have genetic screening?
All pregnant women should be offered genetic screening. It helps parents prepare for a child with special needs.
What are the genetic screens and how are they performed?
Currently the three most common tests are the first trimester screen, the quad screen and the sequential screen. The first trimester screen is usually done between 10 and 13 weeks and involves both an ultrasound and a blood draw, usually taken from your finger. The quad screen is typically done between 15 and 20 weeks, this involves a blood draw taken from your arm.The sequential screen involves two parts. The first part involves an ultrasound between 10 and 13 weeks and a blood draw from your finger. This is followed by a second blood draw done between 15 and 20 weeks.
When can I expect the results?
The results from all the tests take about three to five days. With the sequential screen you will get a preliminary and final result. A low risk result reassures the family their baby is not affected with Down syndrome, 99.97 percent of the time. A high risk result identifies the pregnancies where further testing and evalution is recommended. In addition to screening for Down syndrome, these tests can help identify babies who may have other chromosomal defects or other structural defects like Spina Bifida. If any of the blood tests identify the pregnancy as high risk for birth anomalies, further screening will be recommended, followed by a higher level ultrasound and in some cases amniocentesis.
What are the risks of genetic screenings?
With the blood draw and ultrasound there is no risk. When the amniocentesis is performed by a specialist, the risk is minimal.
RelatedLinks:
Women's Healthhttp://www.alegentcreighton.com/womens
Women's Health Specialists
http://www.alegentcreighton.com/
Dr. Michael Barsoom
http://www.alegentcreighton.com/Barsoom

CRISPR-Cas9 Screening - Horizon Discovery

Haploid genetic screens to uncover the mechanism of action of drugs

Fifteen years after the completion of Human Genome Project, the function of many human genes remains elusive. One major obstacle for the study of human genes is the diploid nature of the genome: Inactivation of one allele is often insufficient to elicit a phenotype because the second (wild-type) allele can maintain gene function. Recently, near-haploid somatic cells were isolated from human patients and taken into culture. Insertional mutagenesis in these cells enables unbiased “yeast-like” genetic screening in human cells. Screens conducted so far have revealed host factors of viruses, elucidated the mechanism of action of bacterial toxins and uncovered the genes defective in rare inherited diseases. At Horizon Discovery, we employ haploid genetic screening to uncover the mechanism of action of drugs. The webinar will highlight the prerequisites of such genetic screens, show some examples of how they perform and discuss possible pitfalls.

10:29

Eric Wieschaus (Princeton/HHMI): Finding Genes that Control Development

Eric Wieschaus (Princeton/HHMI): Finding Genes that Control Development

Eric Wieschaus (Princeton/HHMI): Finding Genes that Control Development

http://ibiomagazine.org/issues/march-2011-issue/eric-wieschaus.htmlEric Wieschaus and Christiane Nusslein-Volhard wanted to understand which genes regulated embryonic development in Drosophila. It took them 2 years to design their experiment and only a few months to execute. A combination of good design and good luck allowed them to start with 40,000 flies and identify just 139 genes necessary for embryonic development.

Genetic Screens Rap

A rap... About GeneticScreens.
Science has too many different scenes
And with that comes crazy schemes
For finding a mutant there's a forward screen
Used toIdentify brand new genes
So with a group of animals I got to inspect
A specific phenotype I've come to collect
So different there's no need to dissect
Cuz the genes that connect tend to reflect
C elegans are hermaphroditic critters
In a dish of ecoli they're gonna make litters
Searchin through worms you nix the quitters
And find an UNC with body moving jitters
Selecting the mutants, you gotta watch them
Cuz after they've bred their fate is grim
To keep f1 pure the flame must condemn
A new generation must now begin
In the real world mutations are rare
And without a mutagen they'll look pretty bare
But science was bound to become aware
Of Ethyl Methansulfonate mutating everywhere
The Ethyl group of the EMS
Jumps into DNA and makes a huge mess
Binding to the guanine causes distress
rounds of replication lead to mutant progress
Regular animals would make you gripe
Model organisms have become the hype
DNA applied to every animal type
Small, cheap, simple, and quick to become ripe
lots to learn by studying their genome
Genetic screens let their alleles be known
Tracing gene points to a designated home
Through linkage analysis you zero in on a zone

Genetic screen

published: 24 Oct 2017

Genetic Screening

Visit comscience.eu : The significance of the debate about what constitutes a disease is underscored by the two broad questions which underlay the current debate: Who decides whether or not testing is done; and what happens to that information? Clearly genetic screening is going to be done. The question is how are we going to use it and what social limit will we put on it? There is an apparent discrepancy between the reality of genetic variability and the democratic ideal that all citizens are "created equal." (also see www.eusem.com)

Genetic Screening

Genetic Screening
Visit our website: http://www.sliderbase.com/
Free PowerPoint Presentations for teaching and learning
What is genetic screening?
One of the fastest moving fields in medical science.
A technique to determine the genotype or phenotype of an organism.
It is often used to detect faulty or abnormal genes in an organism.
Some examples of genetic tests
Prenatal screeningNewborn screeningCarrier screening
This can detect a disorder before a baby is born.
An ultrasound test is used to determine if the fetus is at a high or low risk from a genetic disorder.
Disorders are diagnosed by examining a small amount of fetal cells. This carries a small risk to the fetus.
If diagnosed early in the pregnancy, there is still the possibility of abortion.
Prenatal screening is sometimes seen ...

published: 08 Feb 2016

Genetic Screens with CRISPR: A New Hope in Functional Genomics

Functional genomics attempts to understand the genome by disrupting the flow of information from DNA to RNA to protein and then observing how the cell or organism changes in response. Both RNAi and CRISPR technologies are simply hacks of systems that originally evolved to silence viruses, reprogrammed to target genes we’re interested in studying, as decoding the function of genes is a critical step towards understanding how gene dysfunction leads to disease. Here we will discuss the development and optimization of CRISPR technology for genome-wide genetic screens and its application to multiple biological problems.

published: 12 Jul 2016

Didier Stainier (MPI) 3: Genetic Compensation

Part 1: Vertebrate OrganDevelopment: The Zebrafish Heart: Zebrafish heart development requires the orchestration of cell proliferation, differentiation, and movement. How is this complex process regulated?
Part 2: Cardiac Trabeculation: Trabeculae are muscular ridges that form in the heart ventricle and allow it to pump more forcefully. What controls the localization and development of these structures?
Part 3: GeneticCompensation: Stainier explains why gene mutation via antisense oligos may result in a more severe phenotype than mutation via CRISPR-Cas9 or other gene editing tools.
https://www.ibiology.org/ibioseminars/genetic-compensation.htmlTalk Overview:
How does a fertilized egg develop into a complex multicellular organism such as a fly, mouse or human? During zebrafish ...

published: 25 Jul 2017

Blue white screening of DNA clones

Lecture on blue white screening lacZ of DNA clones after cloning.
http://shomusbiology.weebly.com/
Download the study materials here-
http://shomusbiology.weebly.com/bio-materials.html
The blue-white screen is a screening technique that allows for the rapid and convenient detection of recombinant bacteria in vector-based molecular cloning experiments. DNA of interest is ligated into a vector. The vector is then transformed into competent cell (bacteria), and the competent cells are grown in the presence of X-gal. Cells transformed with vectors containing recombinant DNA will produce white colonies; cells transformed with non-recombinant plasmids (i.e. only the vector) grow into blue colonies.
β-galactosidase is a protein encoded by the lacZ gene of the lac operon, and it exists as a homot...

published: 25 Oct 2013

Genetic Screening During Pregnancy - Alegent Creighton Health

What isGenetic Screening?
Genetic screening is performing tests on a pregnant woman to help determine if the baby she is carrying may have Down syndrome or other birth defects.
Who should have genetic screening?
All pregnant women should be offered genetic screening. It helps parents prepare for a child with special needs.
What are the genetic screens and how are they performed?
Currently the three most common tests are the first trimester screen, the quad screen and the sequential screen. The first trimester screen is usually done between 10 and 13 weeks and involves both an ultrasound and a blood draw, usually taken from your finger. The quad screen is typically done between 15 and 20 weeks, this involves a blood draw taken from your arm.The sequential screen involves two parts. The ...

BroadE Workshop: Genetic Screens with GPP 10/16/2017

CRISPR-Cas9 Screening - Horizon Discovery

published: 18 Sep 2015

Haploid genetic screens to uncover the mechanism of action of drugs

Fifteen years after the completion of Human Genome Project, the function of many human genes remains elusive. One major obstacle for the study of human genes is the diploid nature of the genome: Inactivation of one allele is often insufficient to elicit a phenotype because the second (wild-type) allele can maintain gene function. Recently, near-haploid somatic cells were isolated from human patients and taken into culture. Insertional mutagenesis in these cells enables unbiased “yeast-like” genetic screening in human cells. Screens conducted so far have revealed host factors of viruses, elucidated the mechanism of action of bacterial toxins and uncovered the genes defective in rare inherited diseases. At Horizon Discovery, we employ haploid genetic screening to uncover the mechanism of act...

published: 10 Sep 2015

Eric Wieschaus (Princeton/HHMI): Finding Genes that Control Development

http://ibiomagazine.org/issues/march-2011-issue/eric-wieschaus.htmlEric Wieschaus and Christiane Nusslein-Volhard wanted to understand which genes regulated embryonic development in Drosophila. It took them 2 years to design their experiment and only a few months to execute. A combination of good design and good luck allowed them to start with 40,000 flies and identify just 139 genes necessary for embryonic development.

Original Evolve Fertility Genetic Screens

Genetic Screens Rap

A rap... About GeneticScreens.
Science has too many different scenes
And with that comes crazy schemes
For finding a mutant there's a forward screen
Used toIdentify brand new genes
So with a group of animals I got to inspect
A specific phenotype I've come to collect
So different there's no need to dissect
Cuz the genes that connect tend to reflect
C elegans are hermaphroditic critters
In a dish of ecoli they're gonna make litters
Searchin through worms you nix the quitters
And find an UNC with body moving jitters
Selecting the mutants, you gotta watch them
Cuz after they've bred their fate is grim
To keep f1 pure the flame must condemn
A new generation must now begin
In the real world mutations are rare
And without a mutagen they'll look pretty bare
But scien...

Genetic Screening

Visit comscience.eu : The significance of the debate about what constitutes a disease is underscored by the two broad questions which underlay the current debat...

Visit comscience.eu : The significance of the debate about what constitutes a disease is underscored by the two broad questions which underlay the current debate: Who decides whether or not testing is done; and what happens to that information? Clearly genetic screening is going to be done. The question is how are we going to use it and what social limit will we put on it? There is an apparent discrepancy between the reality of genetic variability and the democratic ideal that all citizens are "created equal." (also see www.eusem.com)

Visit comscience.eu : The significance of the debate about what constitutes a disease is underscored by the two broad questions which underlay the current debate: Who decides whether or not testing is done; and what happens to that information? Clearly genetic screening is going to be done. The question is how are we going to use it and what social limit will we put on it? There is an apparent discrepancy between the reality of genetic variability and the democratic ideal that all citizens are "created equal." (also see www.eusem.com)

Genetic Screening

Genetic Screening
Visit our website: http://www.sliderbase.com/
Free PowerPoint Presentations for teaching and learning
What is genetic screening?
One of the fa...

Genetic Screening
Visit our website: http://www.sliderbase.com/
Free PowerPoint Presentations for teaching and learning
What is genetic screening?
One of the fastest moving fields in medical science.
A technique to determine the genotype or phenotype of an organism.
It is often used to detect faulty or abnormal genes in an organism.
Some examples of genetic tests
Prenatal screeningNewborn screeningCarrier screening
This can detect a disorder before a baby is born.
An ultrasound test is used to determine if the fetus is at a high or low risk from a genetic disorder.
Disorders are diagnosed by examining a small amount of fetal cells. This carries a small risk to the fetus.
If diagnosed early in the pregnancy, there is still the possibility of abortion.
Prenatal screening is sometimes seen as controversial.
Newborns are tested for diseases and early diagnoses allows for immediate treatment.
A blood sample is tested for genetic disorders.
In most of the USA, newborn screening is mandatory, unless parents have a religious objection to it.
Sometimes residual blood samples are used for genetic research, as long as the samples are kept anonymous.
Preimplantation screening: Screening embryos fertilised by IVF before they are implanted into the uterus.
Presymptomatic screening: Screening to predict adult-onset diseases such as Huntington’s disease.
Presymptomatic screening: Screening to estimate the risk of developing cancer or Alzheimer’s disease as an adult.
Forensic/Identity testing: Screening to eg. determine the father of an individual (paternity test).

Genetic Screening
Visit our website: http://www.sliderbase.com/
Free PowerPoint Presentations for teaching and learning
What is genetic screening?
One of the fastest moving fields in medical science.
A technique to determine the genotype or phenotype of an organism.
It is often used to detect faulty or abnormal genes in an organism.
Some examples of genetic tests
Prenatal screeningNewborn screeningCarrier screening
This can detect a disorder before a baby is born.
An ultrasound test is used to determine if the fetus is at a high or low risk from a genetic disorder.
Disorders are diagnosed by examining a small amount of fetal cells. This carries a small risk to the fetus.
If diagnosed early in the pregnancy, there is still the possibility of abortion.
Prenatal screening is sometimes seen as controversial.
Newborns are tested for diseases and early diagnoses allows for immediate treatment.
A blood sample is tested for genetic disorders.
In most of the USA, newborn screening is mandatory, unless parents have a religious objection to it.
Sometimes residual blood samples are used for genetic research, as long as the samples are kept anonymous.
Preimplantation screening: Screening embryos fertilised by IVF before they are implanted into the uterus.
Presymptomatic screening: Screening to predict adult-onset diseases such as Huntington’s disease.
Presymptomatic screening: Screening to estimate the risk of developing cancer or Alzheimer’s disease as an adult.
Forensic/Identity testing: Screening to eg. determine the father of an individual (paternity test).

Genetic Screens with CRISPR: A New Hope in Functional Genomics

Functional genomics attempts to understand the genome by disrupting the flow of information from DNA to RNA to protein and then observing how the cell or organi...

Functional genomics attempts to understand the genome by disrupting the flow of information from DNA to RNA to protein and then observing how the cell or organism changes in response. Both RNAi and CRISPR technologies are simply hacks of systems that originally evolved to silence viruses, reprogrammed to target genes we’re interested in studying, as decoding the function of genes is a critical step towards understanding how gene dysfunction leads to disease. Here we will discuss the development and optimization of CRISPR technology for genome-wide genetic screens and its application to multiple biological problems.

Functional genomics attempts to understand the genome by disrupting the flow of information from DNA to RNA to protein and then observing how the cell or organism changes in response. Both RNAi and CRISPR technologies are simply hacks of systems that originally evolved to silence viruses, reprogrammed to target genes we’re interested in studying, as decoding the function of genes is a critical step towards understanding how gene dysfunction leads to disease. Here we will discuss the development and optimization of CRISPR technology for genome-wide genetic screens and its application to multiple biological problems.

Didier Stainier (MPI) 3: Genetic Compensation

Part 1: Vertebrate OrganDevelopment: The Zebrafish Heart: Zebrafish heart development requires the orchestration of cell proliferation, differentiation, and mo...

Part 1: Vertebrate OrganDevelopment: The Zebrafish Heart: Zebrafish heart development requires the orchestration of cell proliferation, differentiation, and movement. How is this complex process regulated?
Part 2: Cardiac Trabeculation: Trabeculae are muscular ridges that form in the heart ventricle and allow it to pump more forcefully. What controls the localization and development of these structures?
Part 3: GeneticCompensation: Stainier explains why gene mutation via antisense oligos may result in a more severe phenotype than mutation via CRISPR-Cas9 or other gene editing tools.
https://www.ibiology.org/ibioseminars/genetic-compensation.htmlTalk Overview:
How does a fertilized egg develop into a complex multicellular organism such as a fly, mouse or human? During zebrafish heart development, for example, cells must proliferate, differentiate, move and come together to form a complex organ. Didier Stainier explains that zebrafish are an excellent model organism in which to address this question because their eggs are externally fertilized, they produce many offspring and the embryos and larvae are translucent. In addition, specific cells can be fluorescently labelled making it easier to image organ development in live fish. Taking advantage of these characteristics, Stainier and his colleagues performed large forward genetic screens to look for mutants in zebrafish heart development. Their findings provide insight into the evolution and development of the vertebrate heart.
In his second lecture, Stainier describes work from his lab investigating the formation of trabeculae in zebrafish hearts. Trabeculae are multicellular protrusions into the lumen of the ventricle that allow the heart to increase in muscle mass and thus pump more forcefully. Interestingly, trabeculae form only in the ventricle, not in the atrium, and only on the outer curvature of the ventricular lumen. For trabeculae to form, cardiomyocytes must delaminate from the outer layer of muscle cells and proliferate in the lumen. Stainier discusses how his lab identified factors regulating this process including the important roles of blood flow and contractility.
Genefunction in zebrafish has been investigated by 1) randomly mutagenizing the genome, 2) knocking down genes with antisense oligos or 3) more recently, by specifically mutating a gene of interest with gene editing tools. Interestingly, phenotypes obtained by antisense knockdown are often more severe or different than those obtained by gene knockout. In his last lecture, Stainier presents work from his lab that compares knockdown vs knockout of the egfl7 gene in zebrafish (causing severe vs mild vascular defects) and asks why this difference in phenotypes occurs. He walks us through the experiments which show that in the case of egfl7, and numerous other genes, gene knockout effects are compensated by upregulated transcription of paralogous or related genes. This finding raises many questions about how this phenomenon occurs and Stainier’s group continues to investigate this and related questions.
Speaker Biography:
Dr. Didier Stainier is a Director (Principal Investigator) in the Department of Developmental Genetics at the Max Planck Institute for Heart and Lung Research (MPI-HLR), in Bad Nauheim, Germany. His lab uses the zebrafish as a model to study development of the cardiovascular system and pancreas, and the mouse as a model for lung development. Prior to moving to the MPI-HLR, Stainier was Professor of Biochemistry and Biophysics at the University of California, San Francisco from 1995-2012.
Stainier received his PhD in Biochemistry and Molecular Biology from Harvard University where he worked in Wally Gilbert’s lab. As a post-doctoral fellow, Stainier moved to Mark Fishman’s lab at Massachusetts General Hospital where he initiated the studies on zebrafish cardiovascular development and function. Stainier was one of many scientists in Boston and Tübingen who carried out a huge screen for zebrafish mutants in early development and organogenesis. The screen was published in Development in 1996 and remains a useful resource to this day for labs studying fish. Stainier has since published over 200 papers on zebrafish development.
Learn more about Stainier’s research here:
http://www.mpi-hlr.de/en/forschung/dept-iii.html

Part 1: Vertebrate OrganDevelopment: The Zebrafish Heart: Zebrafish heart development requires the orchestration of cell proliferation, differentiation, and movement. How is this complex process regulated?
Part 2: Cardiac Trabeculation: Trabeculae are muscular ridges that form in the heart ventricle and allow it to pump more forcefully. What controls the localization and development of these structures?
Part 3: GeneticCompensation: Stainier explains why gene mutation via antisense oligos may result in a more severe phenotype than mutation via CRISPR-Cas9 or other gene editing tools.
https://www.ibiology.org/ibioseminars/genetic-compensation.htmlTalk Overview:
How does a fertilized egg develop into a complex multicellular organism such as a fly, mouse or human? During zebrafish heart development, for example, cells must proliferate, differentiate, move and come together to form a complex organ. Didier Stainier explains that zebrafish are an excellent model organism in which to address this question because their eggs are externally fertilized, they produce many offspring and the embryos and larvae are translucent. In addition, specific cells can be fluorescently labelled making it easier to image organ development in live fish. Taking advantage of these characteristics, Stainier and his colleagues performed large forward genetic screens to look for mutants in zebrafish heart development. Their findings provide insight into the evolution and development of the vertebrate heart.
In his second lecture, Stainier describes work from his lab investigating the formation of trabeculae in zebrafish hearts. Trabeculae are multicellular protrusions into the lumen of the ventricle that allow the heart to increase in muscle mass and thus pump more forcefully. Interestingly, trabeculae form only in the ventricle, not in the atrium, and only on the outer curvature of the ventricular lumen. For trabeculae to form, cardiomyocytes must delaminate from the outer layer of muscle cells and proliferate in the lumen. Stainier discusses how his lab identified factors regulating this process including the important roles of blood flow and contractility.
Genefunction in zebrafish has been investigated by 1) randomly mutagenizing the genome, 2) knocking down genes with antisense oligos or 3) more recently, by specifically mutating a gene of interest with gene editing tools. Interestingly, phenotypes obtained by antisense knockdown are often more severe or different than those obtained by gene knockout. In his last lecture, Stainier presents work from his lab that compares knockdown vs knockout of the egfl7 gene in zebrafish (causing severe vs mild vascular defects) and asks why this difference in phenotypes occurs. He walks us through the experiments which show that in the case of egfl7, and numerous other genes, gene knockout effects are compensated by upregulated transcription of paralogous or related genes. This finding raises many questions about how this phenomenon occurs and Stainier’s group continues to investigate this and related questions.
Speaker Biography:
Dr. Didier Stainier is a Director (Principal Investigator) in the Department of Developmental Genetics at the Max Planck Institute for Heart and Lung Research (MPI-HLR), in Bad Nauheim, Germany. His lab uses the zebrafish as a model to study development of the cardiovascular system and pancreas, and the mouse as a model for lung development. Prior to moving to the MPI-HLR, Stainier was Professor of Biochemistry and Biophysics at the University of California, San Francisco from 1995-2012.
Stainier received his PhD in Biochemistry and Molecular Biology from Harvard University where he worked in Wally Gilbert’s lab. As a post-doctoral fellow, Stainier moved to Mark Fishman’s lab at Massachusetts General Hospital where he initiated the studies on zebrafish cardiovascular development and function. Stainier was one of many scientists in Boston and Tübingen who carried out a huge screen for zebrafish mutants in early development and organogenesis. The screen was published in Development in 1996 and remains a useful resource to this day for labs studying fish. Stainier has since published over 200 papers on zebrafish development.
Learn more about Stainier’s research here:
http://www.mpi-hlr.de/en/forschung/dept-iii.html

Lecture on blue white screening lacZ of DNA clones after cloning.
http://shomusbiology.weebly.com/
Download the study materials here-
http://shomusbiology.weebly.com/bio-materials.html
The blue-white screen is a screening technique that allows for the rapid and convenient detection of recombinant bacteria in vector-based molecular cloning experiments. DNA of interest is ligated into a vector. The vector is then transformed into competent cell (bacteria), and the competent cells are grown in the presence of X-gal. Cells transformed with vectors containing recombinant DNA will produce white colonies; cells transformed with non-recombinant plasmids (i.e. only the vector) grow into blue colonies.
β-galactosidase is a protein encoded by the lacZ gene of the lac operon, and it exists as a homotetramer in its active state. However, a mutant β-galactosidase derived from the M15 strain of E. coli has its N-terminal residues 11—41 deleted and this mutant, the ω-peptide, is unable to form a tetramer and is inactive. This mutant form of protein however may return fully to its active tetrameric state in the presence of an N-terminal fragment of the protein, the α-peptide. The rescue of function of the mutant β-galactosidase by the α-peptide is called α-complementation.
In this method of screening, the host E. coli strain carries the lacZ deletion mutant (lacZΔM15} which contains the ω-peptide, while the plasmids used carry the lacZα sequence which encodes the first 59 residues of β-galactosidase, the α-peptide. Neither are functional by themselves. However, when the two peptides are expressed together, as when a plasmid containing the lacZα sequence is transformed into a lacZΔM15 cells, they form a functional β-galactosidase enzyme.
The blue/white screening method works by disrupting this α-complementation process. The plasmid carries within the lacZα sequence an internal multiple cloning site (MCS). This MCS within the lacZα sequence can be cut by restriction enzymes so that the foreign DNA may be inserted within the lacZα gene, thereby disrupting the gene and thus production of α-peptide. Consequently, in cells containing the plasmid with an insert, no functional β-galactosidase may be formed.
The presence of an active β-galactosidase can be detected by X-gal, a colourless analog of lactose that may be cleaved by β-galactosidase to form 5-bromo-4-chloro-indoxyl, which then spontaneously dimerizes and oxidizes to form a bright blue insoluble pigment 5,5'-dibromo-4,4'-dichloro-indigo. This results in a characteristic blue colour in cells containing a functional β-galactosidase. Blue colonies therefore show that they may contain a vector with an uninterrupted lacZα (therefore no insert), while white colonies, where X-gal is not hydrolyzed, indicate the presence of an insert in lacZα which disrupts the formation of an active β-galactosidase. Source of the article published in description is Wikipedia. I am sharing their material. Copyright by original content developers of Wikipedia.
Link- http://en.wikipedia.org/wiki/Main_Page

Lecture on blue white screening lacZ of DNA clones after cloning.
http://shomusbiology.weebly.com/
Download the study materials here-
http://shomusbiology.weebly.com/bio-materials.html
The blue-white screen is a screening technique that allows for the rapid and convenient detection of recombinant bacteria in vector-based molecular cloning experiments. DNA of interest is ligated into a vector. The vector is then transformed into competent cell (bacteria), and the competent cells are grown in the presence of X-gal. Cells transformed with vectors containing recombinant DNA will produce white colonies; cells transformed with non-recombinant plasmids (i.e. only the vector) grow into blue colonies.
β-galactosidase is a protein encoded by the lacZ gene of the lac operon, and it exists as a homotetramer in its active state. However, a mutant β-galactosidase derived from the M15 strain of E. coli has its N-terminal residues 11—41 deleted and this mutant, the ω-peptide, is unable to form a tetramer and is inactive. This mutant form of protein however may return fully to its active tetrameric state in the presence of an N-terminal fragment of the protein, the α-peptide. The rescue of function of the mutant β-galactosidase by the α-peptide is called α-complementation.
In this method of screening, the host E. coli strain carries the lacZ deletion mutant (lacZΔM15} which contains the ω-peptide, while the plasmids used carry the lacZα sequence which encodes the first 59 residues of β-galactosidase, the α-peptide. Neither are functional by themselves. However, when the two peptides are expressed together, as when a plasmid containing the lacZα sequence is transformed into a lacZΔM15 cells, they form a functional β-galactosidase enzyme.
The blue/white screening method works by disrupting this α-complementation process. The plasmid carries within the lacZα sequence an internal multiple cloning site (MCS). This MCS within the lacZα sequence can be cut by restriction enzymes so that the foreign DNA may be inserted within the lacZα gene, thereby disrupting the gene and thus production of α-peptide. Consequently, in cells containing the plasmid with an insert, no functional β-galactosidase may be formed.
The presence of an active β-galactosidase can be detected by X-gal, a colourless analog of lactose that may be cleaved by β-galactosidase to form 5-bromo-4-chloro-indoxyl, which then spontaneously dimerizes and oxidizes to form a bright blue insoluble pigment 5,5'-dibromo-4,4'-dichloro-indigo. This results in a characteristic blue colour in cells containing a functional β-galactosidase. Blue colonies therefore show that they may contain a vector with an uninterrupted lacZα (therefore no insert), while white colonies, where X-gal is not hydrolyzed, indicate the presence of an insert in lacZα which disrupts the formation of an active β-galactosidase. Source of the article published in description is Wikipedia. I am sharing their material. Copyright by original content developers of Wikipedia.
Link- http://en.wikipedia.org/wiki/Main_Page

What isGenetic Screening?
Genetic screening is performing tests on a pregnant woman to help determine if the baby she is carrying may have Down syndrome or other birth defects.
Who should have genetic screening?
All pregnant women should be offered genetic screening. It helps parents prepare for a child with special needs.
What are the genetic screens and how are they performed?
Currently the three most common tests are the first trimester screen, the quad screen and the sequential screen. The first trimester screen is usually done between 10 and 13 weeks and involves both an ultrasound and a blood draw, usually taken from your finger. The quad screen is typically done between 15 and 20 weeks, this involves a blood draw taken from your arm.The sequential screen involves two parts. The first part involves an ultrasound between 10 and 13 weeks and a blood draw from your finger. This is followed by a second blood draw done between 15 and 20 weeks.
When can I expect the results?
The results from all the tests take about three to five days. With the sequential screen you will get a preliminary and final result. A low risk result reassures the family their baby is not affected with Down syndrome, 99.97 percent of the time. A high risk result identifies the pregnancies where further testing and evalution is recommended. In addition to screening for Down syndrome, these tests can help identify babies who may have other chromosomal defects or other structural defects like Spina Bifida. If any of the blood tests identify the pregnancy as high risk for birth anomalies, further screening will be recommended, followed by a higher level ultrasound and in some cases amniocentesis.
What are the risks of genetic screenings?
With the blood draw and ultrasound there is no risk. When the amniocentesis is performed by a specialist, the risk is minimal.
RelatedLinks:
Women's Healthhttp://www.alegentcreighton.com/womens
Women's Health Specialists
http://www.alegentcreighton.com/
Dr. Michael Barsoom
http://www.alegentcreighton.com/Barsoom

What isGenetic Screening?
Genetic screening is performing tests on a pregnant woman to help determine if the baby she is carrying may have Down syndrome or other birth defects.
Who should have genetic screening?
All pregnant women should be offered genetic screening. It helps parents prepare for a child with special needs.
What are the genetic screens and how are they performed?
Currently the three most common tests are the first trimester screen, the quad screen and the sequential screen. The first trimester screen is usually done between 10 and 13 weeks and involves both an ultrasound and a blood draw, usually taken from your finger. The quad screen is typically done between 15 and 20 weeks, this involves a blood draw taken from your arm.The sequential screen involves two parts. The first part involves an ultrasound between 10 and 13 weeks and a blood draw from your finger. This is followed by a second blood draw done between 15 and 20 weeks.
When can I expect the results?
The results from all the tests take about three to five days. With the sequential screen you will get a preliminary and final result. A low risk result reassures the family their baby is not affected with Down syndrome, 99.97 percent of the time. A high risk result identifies the pregnancies where further testing and evalution is recommended. In addition to screening for Down syndrome, these tests can help identify babies who may have other chromosomal defects or other structural defects like Spina Bifida. If any of the blood tests identify the pregnancy as high risk for birth anomalies, further screening will be recommended, followed by a higher level ultrasound and in some cases amniocentesis.
What are the risks of genetic screenings?
With the blood draw and ultrasound there is no risk. When the amniocentesis is performed by a specialist, the risk is minimal.
RelatedLinks:
Women's Healthhttp://www.alegentcreighton.com/womens
Women's Health Specialists
http://www.alegentcreighton.com/
Dr. Michael Barsoom
http://www.alegentcreighton.com/Barsoom

Fifteen years after the completion of Human Genome Project, the function of many human genes remains elusive. One major obstacle for the study of human genes is the diploid nature of the genome: Inactivation of one allele is often insufficient to elicit a phenotype because the second (wild-type) allele can maintain gene function. Recently, near-haploid somatic cells were isolated from human patients and taken into culture. Insertional mutagenesis in these cells enables unbiased “yeast-like” genetic screening in human cells. Screens conducted so far have revealed host factors of viruses, elucidated the mechanism of action of bacterial toxins and uncovered the genes defective in rare inherited diseases. At Horizon Discovery, we employ haploid genetic screening to uncover the mechanism of action of drugs. The webinar will highlight the prerequisites of such genetic screens, show some examples of how they perform and discuss possible pitfalls.

Fifteen years after the completion of Human Genome Project, the function of many human genes remains elusive. One major obstacle for the study of human genes is the diploid nature of the genome: Inactivation of one allele is often insufficient to elicit a phenotype because the second (wild-type) allele can maintain gene function. Recently, near-haploid somatic cells were isolated from human patients and taken into culture. Insertional mutagenesis in these cells enables unbiased “yeast-like” genetic screening in human cells. Screens conducted so far have revealed host factors of viruses, elucidated the mechanism of action of bacterial toxins and uncovered the genes defective in rare inherited diseases. At Horizon Discovery, we employ haploid genetic screening to uncover the mechanism of action of drugs. The webinar will highlight the prerequisites of such genetic screens, show some examples of how they perform and discuss possible pitfalls.

published:10 Sep 2015

views:308

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Eric Wieschaus (Princeton/HHMI): Finding Genes that Control Development

http://ibiomagazine.org/issues/march-2011-issue/eric-wieschaus.htmlEric Wieschaus and Christiane Nusslein-Volhard wanted to understand which genes regulated embryonic development in Drosophila. It took them 2 years to design their experiment and only a few months to execute. A combination of good design and good luck allowed them to start with 40,000 flies and identify just 139 genes necessary for embryonic development.

http://ibiomagazine.org/issues/march-2011-issue/eric-wieschaus.htmlEric Wieschaus and Christiane Nusslein-Volhard wanted to understand which genes regulated embryonic development in Drosophila. It took them 2 years to design their experiment and only a few months to execute. A combination of good design and good luck allowed them to start with 40,000 flies and identify just 139 genes necessary for embryonic development.

Genetic Screens Rap

A rap... About GeneticScreens.
Science has too many different scenes
And with that comes crazy schemes
For finding a mutant there's a forward screen
U...

A rap... About GeneticScreens.
Science has too many different scenes
And with that comes crazy schemes
For finding a mutant there's a forward screen
Used toIdentify brand new genes
So with a group of animals I got to inspect
A specific phenotype I've come to collect
So different there's no need to dissect
Cuz the genes that connect tend to reflect
C elegans are hermaphroditic critters
In a dish of ecoli they're gonna make litters
Searchin through worms you nix the quitters
And find an UNC with body moving jitters
Selecting the mutants, you gotta watch them
Cuz after they've bred their fate is grim
To keep f1 pure the flame must condemn
A new generation must now begin
In the real world mutations are rare
And without a mutagen they'll look pretty bare
But science was bound to become aware
Of Ethyl Methansulfonate mutating everywhere
The Ethyl group of the EMS
Jumps into DNA and makes a huge mess
Binding to the guanine causes distress
rounds of replication lead to mutant progress
Regular animals would make you gripe
Model organisms have become the hype
DNA applied to every animal type
Small, cheap, simple, and quick to become ripe
lots to learn by studying their genome
Genetic screens let their alleles be known
Tracing gene points to a designated home
Through linkage analysis you zero in on a zone

A rap... About GeneticScreens.
Science has too many different scenes
And with that comes crazy schemes
For finding a mutant there's a forward screen
Used toIdentify brand new genes
So with a group of animals I got to inspect
A specific phenotype I've come to collect
So different there's no need to dissect
Cuz the genes that connect tend to reflect
C elegans are hermaphroditic critters
In a dish of ecoli they're gonna make litters
Searchin through worms you nix the quitters
And find an UNC with body moving jitters
Selecting the mutants, you gotta watch them
Cuz after they've bred their fate is grim
To keep f1 pure the flame must condemn
A new generation must now begin
In the real world mutations are rare
And without a mutagen they'll look pretty bare
But science was bound to become aware
Of Ethyl Methansulfonate mutating everywhere
The Ethyl group of the EMS
Jumps into DNA and makes a huge mess
Binding to the guanine causes distress
rounds of replication lead to mutant progress
Regular animals would make you gripe
Model organisms have become the hype
DNA applied to every animal type
Small, cheap, simple, and quick to become ripe
lots to learn by studying their genome
Genetic screens let their alleles be known
Tracing gene points to a designated home
Through linkage analysis you zero in on a zone

Genetic Screens with CRISPR: A New Hope in Functional Genomics

Functional genomics attempts to understand the genome by disrupting the flow of information from DNA to RNA to protein and then observing how the cell or organism changes in response. Both RNAi and CRISPR technologies are simply hacks of systems that originally evolved to silence viruses, reprogrammed to target genes we’re interested in studying, as decoding the function of genes is a critical step towards understanding how gene dysfunction leads to disease. Here we will discuss the development and optimization of CRISPR technology for genome-wide genetic screens and its application to multiple biological problems.

published: 12 Jul 2016

BroadE Workshop: Genetic Screens with GPP 10/16/2017

Haploid genetic screens to uncover the mechanism of action of drugs

Fifteen years after the completion of Human Genome Project, the function of many human genes remains elusive. One major obstacle for the study of human genes is the diploid nature of the genome: Inactivation of one allele is often insufficient to elicit a phenotype because the second (wild-type) allele can maintain gene function. Recently, near-haploid somatic cells were isolated from human patients and taken into culture. Insertional mutagenesis in these cells enables unbiased “yeast-like” genetic screening in human cells. Screens conducted so far have revealed host factors of viruses, elucidated the mechanism of action of bacterial toxins and uncovered the genes defective in rare inherited diseases. At Horizon Discovery, we employ haploid genetic screening to uncover the mechanism of act...

Loss-of-function genetic screens with pooled CRISPR sgRNA and RNAi shRNA libraries aid in discovery / prioritization of drug targets, understanding of disease progression and gene-disease associations, analysis of signal transduction pathways, characterization of the mechanisms for compounds, uncovering of synergistic gene interactions, and identification of markers of drug resistance and sensitivity. This webinar presents a comparison of loss-of-function genetic screens performed with CRISPR versus RNAi technology.

published: 27 Jun 2016

CRISPR Screening - The What, Why and How

Speaker: Benedict C. S.Cross, PhD, Team leader (Discovery Screening), Horizon DiscoveryCRISPR–Cas9 mediated genome editing provides a highly efficient way to probe gene function. Using this technology, thousands of genes can be knocked out and their function assessed in a single experiment. We have conducted over 150 of these complex and powerful screens and will use our experience to guide you through the process of screen design, performance and analysis.
We'll be discussing:
• How to use CRISPR screening for target ID and validation, understanding drug MOA and patient stratification
• The screen design, quality control and how to evaluate success of your screening program
• Horizon’s latest developments to the platform
• Horizon’s novel approaches to target validation screening...

published: 14 Sep 2016

Didier Stainier (MPI) 3: Genetic Compensation

Part 1: Vertebrate OrganDevelopment: The Zebrafish Heart: Zebrafish heart development requires the orchestration of cell proliferation, differentiation, and movement. How is this complex process regulated?
Part 2: Cardiac Trabeculation: Trabeculae are muscular ridges that form in the heart ventricle and allow it to pump more forcefully. What controls the localization and development of these structures?
Part 3: GeneticCompensation: Stainier explains why gene mutation via antisense oligos may result in a more severe phenotype than mutation via CRISPR-Cas9 or other gene editing tools.
https://www.ibiology.org/ibioseminars/genetic-compensation.htmlTalk Overview:
How does a fertilized egg develop into a complex multicellular organism such as a fly, mouse or human? During zebrafish ...

Expansion of the genetic alphabet to include a third base pair not only has immediate utility for a number of applications, such as site-specific oligonucleotide labeling, but also serves as the foundation for an organism with an expanded genetic code. Toward this goal, we have examined a large number of different unnatural nucleotides bearing mainly hydrophobic nucleobase analogs that pair based on packing and hydrophobic interactions rather than H-bonding.
Optimization based on extensive structure-activity relationship studies and two screens resulted in the identification of a class of unnatural base pairs that are well recognized by DNA and RNA polymerases. More recently, we have engineered E. coli to im...

Lecture Overview:
Circadian rhythms are an adaptation to the 24 hr day that we experience. Takahashi begins his talk with an historic overview of how the genes controlling circadian clocks were first identified in Drosophila and the cloning tour de force that was required to identify clock genes in mice. He also describes the experiments that resulted in the realization that all cells in the body have a circadian clock, not just cells in the brain.
In part 1B, Takahashi explains that the suprachiasmatic nucleus (SCN) in the brain generates a circadian rhythm of fluctuating body temperature that, in turn, signals to peripheral tissues. Heat shock factor 1 is one of the signaling molecules responsible for communicating the temperature information and resetting peripheral clocks.
In Part ...

http://www.ibiology.org/ibioseminars/protein-folding-infectious-disease-cancer.html
In Part 1a, Dr. Lindquist explains the problem of protein folding. Proteins leave the ribosome as long, linear chains of amino acids but they need to fold into complex three dimensional shapes in the extremely crowded environment of the cytoplasm. Since protein misfolding can be disastrous for cells, proteins known as heat shock proteins (HSPs) have evolved to facilitate proper protein folding. Lindquist explains that sometimes the heat shock response becomes unbalanced resulting in human disease. In the case of cancer, HSPs help cancer cells survive many stresses that would typically kill them. In contrast, many neurodegenerative diseases are a result of protein misfolding and aggregation suggesting th...

Watch this webinar on LabRoots at http://www.labroots.com/webinar/id/183
The ability to modulate gene expression at genome scale has revolutionized functional genomics in mammalian cells. A highly effective method to determine gene function is to perform pooled lentiviral screens. Regardless of whether you are looking to knock out gene function using CRISPR-Cas9 and single guide RNAs (sgRNAs) or knock down gene expression using RNAi and short hairpin RNAs (shRNAs), lentiviral-based pooled screens can be used to interrogate hundreds or thousands of gene targets in parallel. These types of screens can answer a variety of questions including identifying genes that regulate cellular responses and signaling pathways or drug target identification. In comparison to arrayed screens that examine a ...

published: 21 Jan 2016

Spots for Tots - NSW Newborn Screening Program

This video gives users an overview of newborn blood spot screening, covering how and why blood spot tests are done, what disorders are screened for and how newborn screening fits into the public healthcare system. This video also provides information for healthcare practitioners who are involved in the collection of blood spot samples for Newborn Screening.

published: 10 Jun 2015

Sigma Pooled CRISPR Screening for Functional Genomics

This 30 minute webinar will describe the design and application of pooled CRISPR libraries. A Sigma-Aldrich technology expert will discuss unique features of Sigma CRISPR pooled libraries with special attention to CRISPR design and cell culture needs.
CRISPR products
http://www.sigmaaldrich.com/catalog/product/sigma/crispr
Lentiviral Pools, CRISPR and shRNA
http://www.sigmaaldrich.com/catalog/product/sigma/lentiviralpools

Lecture Overview:
Circadian rhythms are an adaptation to the 24 hr day that we experience. Takahashi begins his talk with an historic overview of how the genes controlling circadian clocks were first identified in Drosophila and the cloning tour de force that was required to identify clock genes in mice. He also describes the experiments that resulted in the realization that all cells in the body have a circadian clock, not just cells in the brain.
In part 1B, Takahashi explains that the suprachiasmatic nucleus (SCN) in the brain generates a circadian rhythm of fluctuating body temperature that, in turn, signals to peripheral tissues. Heat shock factor 1 is one of the signaling molecules responsible for communicating the temperature information and resetting peripheral clocks.
In Part ...

Genetic Screens with CRISPR: A New Hope in Functional Genomics

Functional genomics attempts to understand the genome by disrupting the flow of information from DNA to RNA to protein and then observing how the cell or organi...

Functional genomics attempts to understand the genome by disrupting the flow of information from DNA to RNA to protein and then observing how the cell or organism changes in response. Both RNAi and CRISPR technologies are simply hacks of systems that originally evolved to silence viruses, reprogrammed to target genes we’re interested in studying, as decoding the function of genes is a critical step towards understanding how gene dysfunction leads to disease. Here we will discuss the development and optimization of CRISPR technology for genome-wide genetic screens and its application to multiple biological problems.

Functional genomics attempts to understand the genome by disrupting the flow of information from DNA to RNA to protein and then observing how the cell or organism changes in response. Both RNAi and CRISPR technologies are simply hacks of systems that originally evolved to silence viruses, reprogrammed to target genes we’re interested in studying, as decoding the function of genes is a critical step towards understanding how gene dysfunction leads to disease. Here we will discuss the development and optimization of CRISPR technology for genome-wide genetic screens and its application to multiple biological problems.

Fifteen years after the completion of Human Genome Project, the function of many human genes remains elusive. One major obstacle for the study of human genes is the diploid nature of the genome: Inactivation of one allele is often insufficient to elicit a phenotype because the second (wild-type) allele can maintain gene function. Recently, near-haploid somatic cells were isolated from human patients and taken into culture. Insertional mutagenesis in these cells enables unbiased “yeast-like” genetic screening in human cells. Screens conducted so far have revealed host factors of viruses, elucidated the mechanism of action of bacterial toxins and uncovered the genes defective in rare inherited diseases. At Horizon Discovery, we employ haploid genetic screening to uncover the mechanism of action of drugs. The webinar will highlight the prerequisites of such genetic screens, show some examples of how they perform and discuss possible pitfalls.

Fifteen years after the completion of Human Genome Project, the function of many human genes remains elusive. One major obstacle for the study of human genes is the diploid nature of the genome: Inactivation of one allele is often insufficient to elicit a phenotype because the second (wild-type) allele can maintain gene function. Recently, near-haploid somatic cells were isolated from human patients and taken into culture. Insertional mutagenesis in these cells enables unbiased “yeast-like” genetic screening in human cells. Screens conducted so far have revealed host factors of viruses, elucidated the mechanism of action of bacterial toxins and uncovered the genes defective in rare inherited diseases. At Horizon Discovery, we employ haploid genetic screening to uncover the mechanism of action of drugs. The webinar will highlight the prerequisites of such genetic screens, show some examples of how they perform and discuss possible pitfalls.

Speaker: Benedict C. S.Cross, PhD, Team leader (Discovery Screening), Horizon DiscoveryCRISPR–Cas9 mediated genome editing provides a highly efficient way to probe gene function. Using this technology, thousands of genes can be knocked out and their function assessed in a single experiment. We have conducted over 150 of these complex and powerful screens and will use our experience to guide you through the process of screen design, performance and analysis.
We'll be discussing:
• How to use CRISPR screening for target ID and validation, understanding drug MOA and patient stratification
• The screen design, quality control and how to evaluate success of your screening program
• Horizon’s latest developments to the platform
• Horizon’s novel approaches to target validation screening

Speaker: Benedict C. S.Cross, PhD, Team leader (Discovery Screening), Horizon DiscoveryCRISPR–Cas9 mediated genome editing provides a highly efficient way to probe gene function. Using this technology, thousands of genes can be knocked out and their function assessed in a single experiment. We have conducted over 150 of these complex and powerful screens and will use our experience to guide you through the process of screen design, performance and analysis.
We'll be discussing:
• How to use CRISPR screening for target ID and validation, understanding drug MOA and patient stratification
• The screen design, quality control and how to evaluate success of your screening program
• Horizon’s latest developments to the platform
• Horizon’s novel approaches to target validation screening

Didier Stainier (MPI) 3: Genetic Compensation

Part 1: Vertebrate OrganDevelopment: The Zebrafish Heart: Zebrafish heart development requires the orchestration of cell proliferation, differentiation, and mo...

Part 1: Vertebrate OrganDevelopment: The Zebrafish Heart: Zebrafish heart development requires the orchestration of cell proliferation, differentiation, and movement. How is this complex process regulated?
Part 2: Cardiac Trabeculation: Trabeculae are muscular ridges that form in the heart ventricle and allow it to pump more forcefully. What controls the localization and development of these structures?
Part 3: GeneticCompensation: Stainier explains why gene mutation via antisense oligos may result in a more severe phenotype than mutation via CRISPR-Cas9 or other gene editing tools.
https://www.ibiology.org/ibioseminars/genetic-compensation.htmlTalk Overview:
How does a fertilized egg develop into a complex multicellular organism such as a fly, mouse or human? During zebrafish heart development, for example, cells must proliferate, differentiate, move and come together to form a complex organ. Didier Stainier explains that zebrafish are an excellent model organism in which to address this question because their eggs are externally fertilized, they produce many offspring and the embryos and larvae are translucent. In addition, specific cells can be fluorescently labelled making it easier to image organ development in live fish. Taking advantage of these characteristics, Stainier and his colleagues performed large forward genetic screens to look for mutants in zebrafish heart development. Their findings provide insight into the evolution and development of the vertebrate heart.
In his second lecture, Stainier describes work from his lab investigating the formation of trabeculae in zebrafish hearts. Trabeculae are multicellular protrusions into the lumen of the ventricle that allow the heart to increase in muscle mass and thus pump more forcefully. Interestingly, trabeculae form only in the ventricle, not in the atrium, and only on the outer curvature of the ventricular lumen. For trabeculae to form, cardiomyocytes must delaminate from the outer layer of muscle cells and proliferate in the lumen. Stainier discusses how his lab identified factors regulating this process including the important roles of blood flow and contractility.
Genefunction in zebrafish has been investigated by 1) randomly mutagenizing the genome, 2) knocking down genes with antisense oligos or 3) more recently, by specifically mutating a gene of interest with gene editing tools. Interestingly, phenotypes obtained by antisense knockdown are often more severe or different than those obtained by gene knockout. In his last lecture, Stainier presents work from his lab that compares knockdown vs knockout of the egfl7 gene in zebrafish (causing severe vs mild vascular defects) and asks why this difference in phenotypes occurs. He walks us through the experiments which show that in the case of egfl7, and numerous other genes, gene knockout effects are compensated by upregulated transcription of paralogous or related genes. This finding raises many questions about how this phenomenon occurs and Stainier’s group continues to investigate this and related questions.
Speaker Biography:
Dr. Didier Stainier is a Director (Principal Investigator) in the Department of Developmental Genetics at the Max Planck Institute for Heart and Lung Research (MPI-HLR), in Bad Nauheim, Germany. His lab uses the zebrafish as a model to study development of the cardiovascular system and pancreas, and the mouse as a model for lung development. Prior to moving to the MPI-HLR, Stainier was Professor of Biochemistry and Biophysics at the University of California, San Francisco from 1995-2012.
Stainier received his PhD in Biochemistry and Molecular Biology from Harvard University where he worked in Wally Gilbert’s lab. As a post-doctoral fellow, Stainier moved to Mark Fishman’s lab at Massachusetts General Hospital where he initiated the studies on zebrafish cardiovascular development and function. Stainier was one of many scientists in Boston and Tübingen who carried out a huge screen for zebrafish mutants in early development and organogenesis. The screen was published in Development in 1996 and remains a useful resource to this day for labs studying fish. Stainier has since published over 200 papers on zebrafish development.
Learn more about Stainier’s research here:
http://www.mpi-hlr.de/en/forschung/dept-iii.html

Part 1: Vertebrate OrganDevelopment: The Zebrafish Heart: Zebrafish heart development requires the orchestration of cell proliferation, differentiation, and movement. How is this complex process regulated?
Part 2: Cardiac Trabeculation: Trabeculae are muscular ridges that form in the heart ventricle and allow it to pump more forcefully. What controls the localization and development of these structures?
Part 3: GeneticCompensation: Stainier explains why gene mutation via antisense oligos may result in a more severe phenotype than mutation via CRISPR-Cas9 or other gene editing tools.
https://www.ibiology.org/ibioseminars/genetic-compensation.htmlTalk Overview:
How does a fertilized egg develop into a complex multicellular organism such as a fly, mouse or human? During zebrafish heart development, for example, cells must proliferate, differentiate, move and come together to form a complex organ. Didier Stainier explains that zebrafish are an excellent model organism in which to address this question because their eggs are externally fertilized, they produce many offspring and the embryos and larvae are translucent. In addition, specific cells can be fluorescently labelled making it easier to image organ development in live fish. Taking advantage of these characteristics, Stainier and his colleagues performed large forward genetic screens to look for mutants in zebrafish heart development. Their findings provide insight into the evolution and development of the vertebrate heart.
In his second lecture, Stainier describes work from his lab investigating the formation of trabeculae in zebrafish hearts. Trabeculae are multicellular protrusions into the lumen of the ventricle that allow the heart to increase in muscle mass and thus pump more forcefully. Interestingly, trabeculae form only in the ventricle, not in the atrium, and only on the outer curvature of the ventricular lumen. For trabeculae to form, cardiomyocytes must delaminate from the outer layer of muscle cells and proliferate in the lumen. Stainier discusses how his lab identified factors regulating this process including the important roles of blood flow and contractility.
Genefunction in zebrafish has been investigated by 1) randomly mutagenizing the genome, 2) knocking down genes with antisense oligos or 3) more recently, by specifically mutating a gene of interest with gene editing tools. Interestingly, phenotypes obtained by antisense knockdown are often more severe or different than those obtained by gene knockout. In his last lecture, Stainier presents work from his lab that compares knockdown vs knockout of the egfl7 gene in zebrafish (causing severe vs mild vascular defects) and asks why this difference in phenotypes occurs. He walks us through the experiments which show that in the case of egfl7, and numerous other genes, gene knockout effects are compensated by upregulated transcription of paralogous or related genes. This finding raises many questions about how this phenomenon occurs and Stainier’s group continues to investigate this and related questions.
Speaker Biography:
Dr. Didier Stainier is a Director (Principal Investigator) in the Department of Developmental Genetics at the Max Planck Institute for Heart and Lung Research (MPI-HLR), in Bad Nauheim, Germany. His lab uses the zebrafish as a model to study development of the cardiovascular system and pancreas, and the mouse as a model for lung development. Prior to moving to the MPI-HLR, Stainier was Professor of Biochemistry and Biophysics at the University of California, San Francisco from 1995-2012.
Stainier received his PhD in Biochemistry and Molecular Biology from Harvard University where he worked in Wally Gilbert’s lab. As a post-doctoral fellow, Stainier moved to Mark Fishman’s lab at Massachusetts General Hospital where he initiated the studies on zebrafish cardiovascular development and function. Stainier was one of many scientists in Boston and Tübingen who carried out a huge screen for zebrafish mutants in early development and organogenesis. The screen was published in Development in 1996 and remains a useful resource to this day for labs studying fish. Stainier has since published over 200 papers on zebrafish development.
Learn more about Stainier’s research here:
http://www.mpi-hlr.de/en/forschung/dept-iii.html

Expansion of the genetic alphabet to include a third base pair not only has immediate utility for a number of applications, such ...

Expansion of the genetic alphabet to include a third base pair not only has immediate utility for a number of applications, such as site-specific oligonucleotide labeling, but also serves as the foundation for an organism with an expanded genetic code. Toward this goal, we have examined a large number of different unnatural nucleotides bearing mainly hydrophobic nucleobase analogs that pair based on packing and hydrophobic interactions rather than H-bonding.
Optimization based on extensive structure-activity relationship studies and two screens resulted in the identification of a class of unnatural base pairs that are well recognized by DNA and RNA polymerases. More recently, we have engineered E. coli to import the requisite unnatural triphosphates and shown that DNA containing the unnatural base pair is efficiently rep
licated within the cell, resulting in the first semi-synthetic organism that stores increased information in its genome.

Expansion of the genetic alphabet to include a third base pair not only has immediate utility for a number of applications, such as site-specific oligonucleotide labeling, but also serves as the foundation for an organism with an expanded genetic code. Toward this goal, we have examined a large number of different unnatural nucleotides bearing mainly hydrophobic nucleobase analogs that pair based on packing and hydrophobic interactions rather than H-bonding.
Optimization based on extensive structure-activity relationship studies and two screens resulted in the identification of a class of unnatural base pairs that are well recognized by DNA and RNA polymerases. More recently, we have engineered E. coli to import the requisite unnatural triphosphates and shown that DNA containing the unnatural base pair is efficiently rep
licated within the cell, resulting in the first semi-synthetic organism that stores increased information in its genome.

Lecture Overview:
Circadian rhythms are an adaptation to the 24 hr day that we experience. Takahashi begins his talk with an historic overview of how the genes...

Lecture Overview:
Circadian rhythms are an adaptation to the 24 hr day that we experience. Takahashi begins his talk with an historic overview of how the genes controlling circadian clocks were first identified in Drosophila and the cloning tour de force that was required to identify clock genes in mice. He also describes the experiments that resulted in the realization that all cells in the body have a circadian clock, not just cells in the brain.
In part 1B, Takahashi explains that the suprachiasmatic nucleus (SCN) in the brain generates a circadian rhythm of fluctuating body temperature that, in turn, signals to peripheral tissues. Heat shock factor 1 is one of the signaling molecules responsible for communicating the temperature information and resetting peripheral clocks.
In Part 2, Takahashi describes how crossing many mice of different genetic backgrounds allowed his lab to identify several genes that impact the output of the clock gene system through different mechanisms.
Takahashi begins the last part of his presentation with the crystal structures of BMAL and Clock, the two central activators of clock gene transcription. He goes on to describe how his lab showed that BMAL/Clock controls the DNA binding activity of transcriptional regulators of not only cycling genes, but also of basic cell functions such as RNA polymerase 2 occupancy and histone modification.
Speaker Bio:
Joseph Takahashi received his BA in biology from Swarthmore College, his PhD in neuroscience from the University of Oregon, and he was a post-doctoral fellow with MartinZatz at the National Institutes of Mental Health. He then spent 26 years at Northwestern University where he was a faculty member in the Department of Neurobiology and Physiology and in 1997 he became an Investigator of the Howard Hughes Medical Institute. In 2008, Takahashi joined the University of Texas, SouthwesternMedical Center as the Loyd B. Sands Distinguished Chair in Neuroscience.
Using forward genetic screens in mice, Takahashi identified the first mammalian circadian gene "Clock" in 1997. Since then, his lab has gone on to identify and clone numerous circadian genes in both the brain and tissues throughout the body. Takahashi has received numerous awards and honors for his ground-breaking research including election to the National Academy of Sciences.

Lecture Overview:
Circadian rhythms are an adaptation to the 24 hr day that we experience. Takahashi begins his talk with an historic overview of how the genes controlling circadian clocks were first identified in Drosophila and the cloning tour de force that was required to identify clock genes in mice. He also describes the experiments that resulted in the realization that all cells in the body have a circadian clock, not just cells in the brain.
In part 1B, Takahashi explains that the suprachiasmatic nucleus (SCN) in the brain generates a circadian rhythm of fluctuating body temperature that, in turn, signals to peripheral tissues. Heat shock factor 1 is one of the signaling molecules responsible for communicating the temperature information and resetting peripheral clocks.
In Part 2, Takahashi describes how crossing many mice of different genetic backgrounds allowed his lab to identify several genes that impact the output of the clock gene system through different mechanisms.
Takahashi begins the last part of his presentation with the crystal structures of BMAL and Clock, the two central activators of clock gene transcription. He goes on to describe how his lab showed that BMAL/Clock controls the DNA binding activity of transcriptional regulators of not only cycling genes, but also of basic cell functions such as RNA polymerase 2 occupancy and histone modification.
Speaker Bio:
Joseph Takahashi received his BA in biology from Swarthmore College, his PhD in neuroscience from the University of Oregon, and he was a post-doctoral fellow with MartinZatz at the National Institutes of Mental Health. He then spent 26 years at Northwestern University where he was a faculty member in the Department of Neurobiology and Physiology and in 1997 he became an Investigator of the Howard Hughes Medical Institute. In 2008, Takahashi joined the University of Texas, SouthwesternMedical Center as the Loyd B. Sands Distinguished Chair in Neuroscience.
Using forward genetic screens in mice, Takahashi identified the first mammalian circadian gene "Clock" in 1997. Since then, his lab has gone on to identify and clone numerous circadian genes in both the brain and tissues throughout the body. Takahashi has received numerous awards and honors for his ground-breaking research including election to the National Academy of Sciences.

http://www.ibiology.org/ibioseminars/protein-folding-infectious-disease-cancer.html
In Part 1a, Dr. Lindquist explains the problem of protein folding. Protein...

http://www.ibiology.org/ibioseminars/protein-folding-infectious-disease-cancer.html
In Part 1a, Dr. Lindquist explains the problem of protein folding. Proteins leave the ribosome as long, linear chains of amino acids but they need to fold into complex three dimensional shapes in the extremely crowded environment of the cytoplasm. Since protein misfolding can be disastrous for cells, proteins known as heat shock proteins (HSPs) have evolved to facilitate proper protein folding. Lindquist explains that sometimes the heat shock response becomes unbalanced resulting in human disease. In the case of cancer, HSPs help cancer cells survive many stresses that would typically kill them. In contrast, many neurodegenerative diseases are a result of protein misfolding and aggregation suggesting that, in these diseases, HSPs are not activated when they should be.
Yeast have many of the same cellular processes as humans including a stress response to aid in protein folding and prevent protein aggregation. In Part 1b, Lindquist describes how genetic screens in yeast helped scientists identify mutations that increased the formation of aggregates similar to those found in neurodegenerative diseases. Furthermore a screen in yeast of ~500,000 chemicals identified a number of compounds that prevented protein aggregation. Results from both experiments have since been validated in mice and human neuronal models.
When cells undergo stress, the expression of HSPs increases. In Part 2, Lindquist explains that while most HSPs are expressed only as needed, Hsp90 is expressed in excess. This “buffer” of Hsp90 facilitates the folding of some mutant proteins (such as v-src) that would usually misfold and be degraded by the cell. Thus, Hsp90 potentiates the impact of these mutations. Interestingly, the Hsp90 “buffer” can also act to hide or suppress the impact of other mutations. These “hidden” mutations are found when cells are stressed reducing the pool of available Hsp90. Thus, Hsp90 provides a plausible mechanism for allowing genetic diversity and fluctuating environments to fuel the pace of evolutionary change.
In her last talk, Lindquist focuses on prion proteins. Prions are perhaps best known as the infectious agents in diseases such as mad cow disease. However, Lindquist argues that there are many great things about prions too. They provide a protein-based mechanism of inheritance that allows organisms to develop new traits, quickly and reversibly, and thereby adapt to new environments. Working in yeast, Lindquist and her colleagues were able to identify numerous prion-like proteins that are induced at different levels, depending on the temperature, pH or presence of bacteria. Expression of prions caused heritable, phenotypic changes in the yeast demonstrating that prions are another mechanism by which environmental changes can induce new traits that can be passed onto progeny. As Lindquist says, perhaps it is time to give Lamarck back his dignity.
Speaker Biography:
Susan Lindquist is a member and former Director of the Whitehead Institute for Biomedical Research. She is also a Howard Hughes Medical InstituteInvestigator and Professor of Biology at the Massachusetts Institute of Technology. She received her Ph.D. in biology from Harvard and was a postdoctoral fellow of the American Cancer Society. Lindquist was on the faculty of the University of Chicago for over 20 years before moving to MIT in 2001.
A pioneer in the study of protein folding, Lindquist found that the chaperone Hsp90 potentiates and buffers the effects of genetic variation, fueling evolutionary mechanisms as diverse as malignant transformation and the emergence of drug resistance. Her work established the molecular basis for protein-based mechanisms of inheritance and she demonstrated that Hsp90 and prions each provide distinct but feasible mechanisms of Lamarckian inheritance.
Dr. Lindquist is an elected member of the National Academy of Sciences, the Academy of Medicine and the Royal Society. Her honors also include the Dickson Prize in Medicine, the Otto-Warburg Prize, the Genetics Society of America Medal, the FASEB Excellence in Science Award, the E.B. WilsonMedal, the Vanderbilt Prize for Women’s Excellence in Science and Mentorship and the National Medal of Science.

http://www.ibiology.org/ibioseminars/protein-folding-infectious-disease-cancer.html
In Part 1a, Dr. Lindquist explains the problem of protein folding. Proteins leave the ribosome as long, linear chains of amino acids but they need to fold into complex three dimensional shapes in the extremely crowded environment of the cytoplasm. Since protein misfolding can be disastrous for cells, proteins known as heat shock proteins (HSPs) have evolved to facilitate proper protein folding. Lindquist explains that sometimes the heat shock response becomes unbalanced resulting in human disease. In the case of cancer, HSPs help cancer cells survive many stresses that would typically kill them. In contrast, many neurodegenerative diseases are a result of protein misfolding and aggregation suggesting that, in these diseases, HSPs are not activated when they should be.
Yeast have many of the same cellular processes as humans including a stress response to aid in protein folding and prevent protein aggregation. In Part 1b, Lindquist describes how genetic screens in yeast helped scientists identify mutations that increased the formation of aggregates similar to those found in neurodegenerative diseases. Furthermore a screen in yeast of ~500,000 chemicals identified a number of compounds that prevented protein aggregation. Results from both experiments have since been validated in mice and human neuronal models.
When cells undergo stress, the expression of HSPs increases. In Part 2, Lindquist explains that while most HSPs are expressed only as needed, Hsp90 is expressed in excess. This “buffer” of Hsp90 facilitates the folding of some mutant proteins (such as v-src) that would usually misfold and be degraded by the cell. Thus, Hsp90 potentiates the impact of these mutations. Interestingly, the Hsp90 “buffer” can also act to hide or suppress the impact of other mutations. These “hidden” mutations are found when cells are stressed reducing the pool of available Hsp90. Thus, Hsp90 provides a plausible mechanism for allowing genetic diversity and fluctuating environments to fuel the pace of evolutionary change.
In her last talk, Lindquist focuses on prion proteins. Prions are perhaps best known as the infectious agents in diseases such as mad cow disease. However, Lindquist argues that there are many great things about prions too. They provide a protein-based mechanism of inheritance that allows organisms to develop new traits, quickly and reversibly, and thereby adapt to new environments. Working in yeast, Lindquist and her colleagues were able to identify numerous prion-like proteins that are induced at different levels, depending on the temperature, pH or presence of bacteria. Expression of prions caused heritable, phenotypic changes in the yeast demonstrating that prions are another mechanism by which environmental changes can induce new traits that can be passed onto progeny. As Lindquist says, perhaps it is time to give Lamarck back his dignity.
Speaker Biography:
Susan Lindquist is a member and former Director of the Whitehead Institute for Biomedical Research. She is also a Howard Hughes Medical InstituteInvestigator and Professor of Biology at the Massachusetts Institute of Technology. She received her Ph.D. in biology from Harvard and was a postdoctoral fellow of the American Cancer Society. Lindquist was on the faculty of the University of Chicago for over 20 years before moving to MIT in 2001.
A pioneer in the study of protein folding, Lindquist found that the chaperone Hsp90 potentiates and buffers the effects of genetic variation, fueling evolutionary mechanisms as diverse as malignant transformation and the emergence of drug resistance. Her work established the molecular basis for protein-based mechanisms of inheritance and she demonstrated that Hsp90 and prions each provide distinct but feasible mechanisms of Lamarckian inheritance.
Dr. Lindquist is an elected member of the National Academy of Sciences, the Academy of Medicine and the Royal Society. Her honors also include the Dickson Prize in Medicine, the Otto-Warburg Prize, the Genetics Society of America Medal, the FASEB Excellence in Science Award, the E.B. WilsonMedal, the Vanderbilt Prize for Women’s Excellence in Science and Mentorship and the National Medal of Science.

Watch this webinar on LabRoots at http://www.labroots.com/webinar/id/183
The ability to modulate gene expression at genome scale has revolutionized functional g...

Watch this webinar on LabRoots at http://www.labroots.com/webinar/id/183
The ability to modulate gene expression at genome scale has revolutionized functional genomics in mammalian cells. A highly effective method to determine gene function is to perform pooled lentiviral screens. Regardless of whether you are looking to knock out gene function using CRISPR-Cas9 and single guide RNAs (sgRNAs) or knock down gene expression using RNAi and short hairpin RNAs (shRNAs), lentiviral-based pooled screens can be used to interrogate hundreds or thousands of gene targets in parallel. These types of screens can answer a variety of questions including identifying genes that regulate cellular responses and signaling pathways or drug target identification. In comparison to arrayed screens that examine a single reagent at a time and require considerable automation and liquid handling, pooled screens do not require automation and therefore can be performed by many research labs. However, pooled library screening presents unique challenges that must be addressed to ensure experimental success.
During this webinar we will discuss considerations and nuances that can lead to success or failure of pooled lentiviral screens. We will present experimental data to highlight many variables that impact pooled screening including size of the pooled library and maintaining fold-representation throughout the experiment. We will also introduce tools that can make these experiments easier to perform and help ensure successful screening. To provide context for technology selection, we will present a comparison of data from two pooled screens, one using sgRNAs and the other using shRNAs. Both screens analyzed the role of kinases in cell viability.

Watch this webinar on LabRoots at http://www.labroots.com/webinar/id/183
The ability to modulate gene expression at genome scale has revolutionized functional genomics in mammalian cells. A highly effective method to determine gene function is to perform pooled lentiviral screens. Regardless of whether you are looking to knock out gene function using CRISPR-Cas9 and single guide RNAs (sgRNAs) or knock down gene expression using RNAi and short hairpin RNAs (shRNAs), lentiviral-based pooled screens can be used to interrogate hundreds or thousands of gene targets in parallel. These types of screens can answer a variety of questions including identifying genes that regulate cellular responses and signaling pathways or drug target identification. In comparison to arrayed screens that examine a single reagent at a time and require considerable automation and liquid handling, pooled screens do not require automation and therefore can be performed by many research labs. However, pooled library screening presents unique challenges that must be addressed to ensure experimental success.
During this webinar we will discuss considerations and nuances that can lead to success or failure of pooled lentiviral screens. We will present experimental data to highlight many variables that impact pooled screening including size of the pooled library and maintaining fold-representation throughout the experiment. We will also introduce tools that can make these experiments easier to perform and help ensure successful screening. To provide context for technology selection, we will present a comparison of data from two pooled screens, one using sgRNAs and the other using shRNAs. Both screens analyzed the role of kinases in cell viability.

Spots for Tots - NSW Newborn Screening Program

This video gives users an overview of newborn blood spot screening, covering how and why blood spot tests are done, what disorders are screened for and how newb...

This video gives users an overview of newborn blood spot screening, covering how and why blood spot tests are done, what disorders are screened for and how newborn screening fits into the public healthcare system. This video also provides information for healthcare practitioners who are involved in the collection of blood spot samples for Newborn Screening.

This video gives users an overview of newborn blood spot screening, covering how and why blood spot tests are done, what disorders are screened for and how newborn screening fits into the public healthcare system. This video also provides information for healthcare practitioners who are involved in the collection of blood spot samples for Newborn Screening.

Lecture Overview:
Circadian rhythms are an adaptation to the 24 hr day that we experience. Takahashi begins his talk with an historic overview of how the genes...

Lecture Overview:
Circadian rhythms are an adaptation to the 24 hr day that we experience. Takahashi begins his talk with an historic overview of how the genes controlling circadian clocks were first identified in Drosophila and the cloning tour de force that was required to identify clock genes in mice. He also describes the experiments that resulted in the realization that all cells in the body have a circadian clock, not just cells in the brain.
In part 1B, Takahashi explains that the suprachiasmatic nucleus (SCN) in the brain generates a circadian rhythm of fluctuating body temperature that, in turn, signals to peripheral tissues. Heat shock factor 1 is one of the signaling molecules responsible for communicating the temperature information and resetting peripheral clocks.
In Part 2, Takahashi describes how crossing many mice of different genetic backgrounds allowed his lab to identify several genes that impact the output of the clock gene system through different mechanisms.
Takahashi begins the last part of his presentation with the crystal structures of BMAL and Clock, the two central activators of clock gene transcription. He goes on to describe how his lab showed that BMAL/Clock controls the DNA binding activity of transcriptional regulators of not only cycling genes, but also of basic cell functions such as RNA polymerase 2 occupancy and histone modification.
Speaker Bio:
Joseph Takahashi received his BA in biology from Swarthmore College, his PhD in neuroscience from the University of Oregon, and he was a post-doctoral fellow with MartinZatz at the National Institutes of Mental Health. He then spent 26 years at Northwestern University where he was a faculty member in the Department of Neurobiology and Physiology and in 1997 he became an Investigator of the Howard Hughes Medical Institute. In 2008, Takahashi joined the University of Texas, SouthwesternMedical Center as the Loyd B. Sands Distinguished Chair in Neuroscience.
Using forward genetic screens in mice, Takahashi identified the first mammalian circadian gene "Clock" in 1997. Since then, his lab has gone on to identify and clone numerous circadian genes in both the brain and tissues throughout the body. Takahashi has received numerous awards and honors for his ground-breaking research including election to the National Academy of Sciences.

Lecture Overview:
Circadian rhythms are an adaptation to the 24 hr day that we experience. Takahashi begins his talk with an historic overview of how the genes controlling circadian clocks were first identified in Drosophila and the cloning tour de force that was required to identify clock genes in mice. He also describes the experiments that resulted in the realization that all cells in the body have a circadian clock, not just cells in the brain.
In part 1B, Takahashi explains that the suprachiasmatic nucleus (SCN) in the brain generates a circadian rhythm of fluctuating body temperature that, in turn, signals to peripheral tissues. Heat shock factor 1 is one of the signaling molecules responsible for communicating the temperature information and resetting peripheral clocks.
In Part 2, Takahashi describes how crossing many mice of different genetic backgrounds allowed his lab to identify several genes that impact the output of the clock gene system through different mechanisms.
Takahashi begins the last part of his presentation with the crystal structures of BMAL and Clock, the two central activators of clock gene transcription. He goes on to describe how his lab showed that BMAL/Clock controls the DNA binding activity of transcriptional regulators of not only cycling genes, but also of basic cell functions such as RNA polymerase 2 occupancy and histone modification.
Speaker Bio:
Joseph Takahashi received his BA in biology from Swarthmore College, his PhD in neuroscience from the University of Oregon, and he was a post-doctoral fellow with MartinZatz at the National Institutes of Mental Health. He then spent 26 years at Northwestern University where he was a faculty member in the Department of Neurobiology and Physiology and in 1997 he became an Investigator of the Howard Hughes Medical Institute. In 2008, Takahashi joined the University of Texas, SouthwesternMedical Center as the Loyd B. Sands Distinguished Chair in Neuroscience.
Using forward genetic screens in mice, Takahashi identified the first mammalian circadian gene "Clock" in 1997. Since then, his lab has gone on to identify and clone numerous circadian genes in both the brain and tissues throughout the body. Takahashi has received numerous awards and honors for his ground-breaking research including election to the National Academy of Sciences.

Genetic Screening

Visit comscience.eu : The significance of the debate about what constitutes a disease is underscored by the two broad questions which underlay the current debate: Who decides whether or not testing is done; and what happens to that information? Clearly genetic screening is going to be done. The question is how are we going to use it and what social limit will we put on it? There is an apparent discrepancy between the reality of genetic variability and the democratic ideal that all citizens are "created equal." (also see www.eusem.com)

Genetic Screening

Genetic Screening
Visit our website: http://www.sliderbase.com/
Free PowerPoint Presentations for teaching and learning
What is genetic screening?
One of the fastest moving fields in medical science.
A technique to determine the genotype or phenotype of an organism.
It is often used to detect faulty or abnormal genes in an organism.
Some examples of genetic tests
Prenatal screeningNewborn screeningCarrier screening
This can detect a disorder before a baby is born.
An ultrasound test is used to determine if the fetus is at a high or low risk from a genetic disorder.
Disorders are diagnosed by examining a small amount of fetal cells. This carries a small risk to the fetus.
If diagnosed early in the pregnancy, there is still the possibility of abortion.
Prenatal screening is sometimes seen as controversial.
Newborns are tested for diseases and early diagnoses allows for immediate treatment.
A blood sample is tested for genetic disorders.
In most of the USA, newborn screening is mandatory, unless parents have a religious objection to it.
Sometimes residual blood samples are used for genetic research, as long as the samples are kept anonymous.
Preimplantation screening: Screening embryos fertilised by IVF before they are implanted into the uterus.
Presymptomatic screening: Screening to predict adult-onset diseases such as Huntington’s disease.
Presymptomatic screening: Screening to estimate the risk of developing cancer or Alzheimer’s disease as an adult.
Forensic/Identity testing: Screening to eg. determine the father of an individual (paternity test).

46:41

Genetic Screens with CRISPR: A New Hope in Functional Genomics

Functional genomics attempts to understand the genome by disrupting the flow of informatio...

Genetic Screens with CRISPR: A New Hope in Functional Genomics

Functional genomics attempts to understand the genome by disrupting the flow of information from DNA to RNA to protein and then observing how the cell or organism changes in response. Both RNAi and CRISPR technologies are simply hacks of systems that originally evolved to silence viruses, reprogrammed to target genes we’re interested in studying, as decoding the function of genes is a critical step towards understanding how gene dysfunction leads to disease. Here we will discuss the development and optimization of CRISPR technology for genome-wide genetic screens and its application to multiple biological problems.

Didier Stainier (MPI) 3: Genetic Compensation

Part 1: Vertebrate OrganDevelopment: The Zebrafish Heart: Zebrafish heart development requires the orchestration of cell proliferation, differentiation, and movement. How is this complex process regulated?
Part 2: Cardiac Trabeculation: Trabeculae are muscular ridges that form in the heart ventricle and allow it to pump more forcefully. What controls the localization and development of these structures?
Part 3: GeneticCompensation: Stainier explains why gene mutation via antisense oligos may result in a more severe phenotype than mutation via CRISPR-Cas9 or other gene editing tools.
https://www.ibiology.org/ibioseminars/genetic-compensation.htmlTalk Overview:
How does a fertilized egg develop into a complex multicellular organism such as a fly, mouse or human? During zebrafish heart development, for example, cells must proliferate, differentiate, move and come together to form a complex organ. Didier Stainier explains that zebrafish are an excellent model organism in which to address this question because their eggs are externally fertilized, they produce many offspring and the embryos and larvae are translucent. In addition, specific cells can be fluorescently labelled making it easier to image organ development in live fish. Taking advantage of these characteristics, Stainier and his colleagues performed large forward genetic screens to look for mutants in zebrafish heart development. Their findings provide insight into the evolution and development of the vertebrate heart.
In his second lecture, Stainier describes work from his lab investigating the formation of trabeculae in zebrafish hearts. Trabeculae are multicellular protrusions into the lumen of the ventricle that allow the heart to increase in muscle mass and thus pump more forcefully. Interestingly, trabeculae form only in the ventricle, not in the atrium, and only on the outer curvature of the ventricular lumen. For trabeculae to form, cardiomyocytes must delaminate from the outer layer of muscle cells and proliferate in the lumen. Stainier discusses how his lab identified factors regulating this process including the important roles of blood flow and contractility.
Genefunction in zebrafish has been investigated by 1) randomly mutagenizing the genome, 2) knocking down genes with antisense oligos or 3) more recently, by specifically mutating a gene of interest with gene editing tools. Interestingly, phenotypes obtained by antisense knockdown are often more severe or different than those obtained by gene knockout. In his last lecture, Stainier presents work from his lab that compares knockdown vs knockout of the egfl7 gene in zebrafish (causing severe vs mild vascular defects) and asks why this difference in phenotypes occurs. He walks us through the experiments which show that in the case of egfl7, and numerous other genes, gene knockout effects are compensated by upregulated transcription of paralogous or related genes. This finding raises many questions about how this phenomenon occurs and Stainier’s group continues to investigate this and related questions.
Speaker Biography:
Dr. Didier Stainier is a Director (Principal Investigator) in the Department of Developmental Genetics at the Max Planck Institute for Heart and Lung Research (MPI-HLR), in Bad Nauheim, Germany. His lab uses the zebrafish as a model to study development of the cardiovascular system and pancreas, and the mouse as a model for lung development. Prior to moving to the MPI-HLR, Stainier was Professor of Biochemistry and Biophysics at the University of California, San Francisco from 1995-2012.
Stainier received his PhD in Biochemistry and Molecular Biology from Harvard University where he worked in Wally Gilbert’s lab. As a post-doctoral fellow, Stainier moved to Mark Fishman’s lab at Massachusetts General Hospital where he initiated the studies on zebrafish cardiovascular development and function. Stainier was one of many scientists in Boston and Tübingen who carried out a huge screen for zebrafish mutants in early development and organogenesis. The screen was published in Development in 1996 and remains a useful resource to this day for labs studying fish. Stainier has since published over 200 papers on zebrafish development.
Learn more about Stainier’s research here:
http://www.mpi-hlr.de/en/forschung/dept-iii.html

Blue white screening of DNA clones

Lecture on blue white screening lacZ of DNA clones after cloning.
http://shomusbiology.weebly.com/
Download the study materials here-
http://shomusbiology.weebly.com/bio-materials.html
The blue-white screen is a screening technique that allows for the rapid and convenient detection of recombinant bacteria in vector-based molecular cloning experiments. DNA of interest is ligated into a vector. The vector is then transformed into competent cell (bacteria), and the competent cells are grown in the presence of X-gal. Cells transformed with vectors containing recombinant DNA will produce white colonies; cells transformed with non-recombinant plasmids (i.e. only the vector) grow into blue colonies.
β-galactosidase is a protein encoded by the lacZ gene of the lac operon, and it exists as a homotetramer in its active state. However, a mutant β-galactosidase derived from the M15 strain of E. coli has its N-terminal residues 11—41 deleted and this mutant, the ω-peptide, is unable to form a tetramer and is inactive. This mutant form of protein however may return fully to its active tetrameric state in the presence of an N-terminal fragment of the protein, the α-peptide. The rescue of function of the mutant β-galactosidase by the α-peptide is called α-complementation.
In this method of screening, the host E. coli strain carries the lacZ deletion mutant (lacZΔM15} which contains the ω-peptide, while the plasmids used carry the lacZα sequence which encodes the first 59 residues of β-galactosidase, the α-peptide. Neither are functional by themselves. However, when the two peptides are expressed together, as when a plasmid containing the lacZα sequence is transformed into a lacZΔM15 cells, they form a functional β-galactosidase enzyme.
The blue/white screening method works by disrupting this α-complementation process. The plasmid carries within the lacZα sequence an internal multiple cloning site (MCS). This MCS within the lacZα sequence can be cut by restriction enzymes so that the foreign DNA may be inserted within the lacZα gene, thereby disrupting the gene and thus production of α-peptide. Consequently, in cells containing the plasmid with an insert, no functional β-galactosidase may be formed.
The presence of an active β-galactosidase can be detected by X-gal, a colourless analog of lactose that may be cleaved by β-galactosidase to form 5-bromo-4-chloro-indoxyl, which then spontaneously dimerizes and oxidizes to form a bright blue insoluble pigment 5,5'-dibromo-4,4'-dichloro-indigo. This results in a characteristic blue colour in cells containing a functional β-galactosidase. Blue colonies therefore show that they may contain a vector with an uninterrupted lacZα (therefore no insert), while white colonies, where X-gal is not hydrolyzed, indicate the presence of an insert in lacZα which disrupts the formation of an active β-galactosidase. Source of the article published in description is Wikipedia. I am sharing their material. Copyright by original content developers of Wikipedia.
Link- http://en.wikipedia.org/wiki/Main_Page

2:21

Genetic Screening During Pregnancy - Alegent Creighton Health

What is Genetic Screening?
Genetic screening is performing tests on a pregnant woman to he...

Genetic Screening During Pregnancy - Alegent Creighton Health

What isGenetic Screening?
Genetic screening is performing tests on a pregnant woman to help determine if the baby she is carrying may have Down syndrome or other birth defects.
Who should have genetic screening?
All pregnant women should be offered genetic screening. It helps parents prepare for a child with special needs.
What are the genetic screens and how are they performed?
Currently the three most common tests are the first trimester screen, the quad screen and the sequential screen. The first trimester screen is usually done between 10 and 13 weeks and involves both an ultrasound and a blood draw, usually taken from your finger. The quad screen is typically done between 15 and 20 weeks, this involves a blood draw taken from your arm.The sequential screen involves two parts. The first part involves an ultrasound between 10 and 13 weeks and a blood draw from your finger. This is followed by a second blood draw done between 15 and 20 weeks.
When can I expect the results?
The results from all the tests take about three to five days. With the sequential screen you will get a preliminary and final result. A low risk result reassures the family their baby is not affected with Down syndrome, 99.97 percent of the time. A high risk result identifies the pregnancies where further testing and evalution is recommended. In addition to screening for Down syndrome, these tests can help identify babies who may have other chromosomal defects or other structural defects like Spina Bifida. If any of the blood tests identify the pregnancy as high risk for birth anomalies, further screening will be recommended, followed by a higher level ultrasound and in some cases amniocentesis.
What are the risks of genetic screenings?
With the blood draw and ultrasound there is no risk. When the amniocentesis is performed by a specialist, the risk is minimal.
RelatedLinks:
Women's Healthhttp://www.alegentcreighton.com/womens
Women's Health Specialists
http://www.alegentcreighton.com/
Dr. Michael Barsoom
http://www.alegentcreighton.com/Barsoom

Haploid genetic screens to uncover the mechanism of action of drugs

Fifteen years after the completion of Human Genome Project, the function of many human genes remains elusive. One major obstacle for the study of human genes is the diploid nature of the genome: Inactivation of one allele is often insufficient to elicit a phenotype because the second (wild-type) allele can maintain gene function. Recently, near-haploid somatic cells were isolated from human patients and taken into culture. Insertional mutagenesis in these cells enables unbiased “yeast-like” genetic screening in human cells. Screens conducted so far have revealed host factors of viruses, elucidated the mechanism of action of bacterial toxins and uncovered the genes defective in rare inherited diseases. At Horizon Discovery, we employ haploid genetic screening to uncover the mechanism of action of drugs. The webinar will highlight the prerequisites of such genetic screens, show some examples of how they perform and discuss possible pitfalls.

10:29

Eric Wieschaus (Princeton/HHMI): Finding Genes that Control Development

Eric Wieschaus (Princeton/HHMI): Finding Genes that Control Development

http://ibiomagazine.org/issues/march-2011-issue/eric-wieschaus.htmlEric Wieschaus and Christiane Nusslein-Volhard wanted to understand which genes regulated embryonic development in Drosophila. It took them 2 years to design their experiment and only a few months to execute. A combination of good design and good luck allowed them to start with 40,000 flies and identify just 139 genes necessary for embryonic development.

Genetic Screens Rap

A rap... About GeneticScreens.
Science has too many different scenes
And with that comes crazy schemes
For finding a mutant there's a forward screen
Used toIdentify brand new genes
So with a group of animals I got to inspect
A specific phenotype I've come to collect
So different there's no need to dissect
Cuz the genes that connect tend to reflect
C elegans are hermaphroditic critters
In a dish of ecoli they're gonna make litters
Searchin through worms you nix the quitters
And find an UNC with body moving jitters
Selecting the mutants, you gotta watch them
Cuz after they've bred their fate is grim
To keep f1 pure the flame must condemn
A new generation must now begin
In the real world mutations are rare
And without a mutagen they'll look pretty bare
But science was bound to become aware
Of Ethyl Methansulfonate mutating everywhere
The Ethyl group of the EMS
Jumps into DNA and makes a huge mess
Binding to the guanine causes distress
rounds of replication lead to mutant progress
Regular animals would make you gripe
Model organisms have become the hype
DNA applied to every animal type
Small, cheap, simple, and quick to become ripe
lots to learn by studying their genome
Genetic screens let their alleles be known
Tracing gene points to a designated home
Through linkage analysis you zero in on a zone

Genetic Screens with CRISPR: A New Hope in Functional Genomics

Functional genomics attempts to understand the genome by disrupting the flow of information from DNA to RNA to protein and then observing how the cell or organism changes in response. Both RNAi and CRISPR technologies are simply hacks of systems that originally evolved to silence viruses, reprogrammed to target genes we’re interested in studying, as decoding the function of genes is a critical step towards understanding how gene dysfunction leads to disease. Here we will discuss the development and optimization of CRISPR technology for genome-wide genetic screens and its application to multiple biological problems.

Haploid genetic screens to uncover the mechanism of action of drugs

Fifteen years after the completion of Human Genome Project, the function of many human genes remains elusive. One major obstacle for the study of human genes is the diploid nature of the genome: Inactivation of one allele is often insufficient to elicit a phenotype because the second (wild-type) allele can maintain gene function. Recently, near-haploid somatic cells were isolated from human patients and taken into culture. Insertional mutagenesis in these cells enables unbiased “yeast-like” genetic screening in human cells. Screens conducted so far have revealed host factors of viruses, elucidated the mechanism of action of bacterial toxins and uncovered the genes defective in rare inherited diseases. At Horizon Discovery, we employ haploid genetic screening to uncover the mechanism of action of drugs. The webinar will highlight the prerequisites of such genetic screens, show some examples of how they perform and discuss possible pitfalls.

CRISPR Screening - The What, Why and How

Speaker: Benedict C. S.Cross, PhD, Team leader (Discovery Screening), Horizon DiscoveryCRISPR–Cas9 mediated genome editing provides a highly efficient way to probe gene function. Using this technology, thousands of genes can be knocked out and their function assessed in a single experiment. We have conducted over 150 of these complex and powerful screens and will use our experience to guide you through the process of screen design, performance and analysis.
We'll be discussing:
• How to use CRISPR screening for target ID and validation, understanding drug MOA and patient stratification
• The screen design, quality control and how to evaluate success of your screening program
• Horizon’s latest developments to the platform
• Horizon’s novel approaches to target validation screening

Didier Stainier (MPI) 3: Genetic Compensation

Part 1: Vertebrate OrganDevelopment: The Zebrafish Heart: Zebrafish heart development requires the orchestration of cell proliferation, differentiation, and movement. How is this complex process regulated?
Part 2: Cardiac Trabeculation: Trabeculae are muscular ridges that form in the heart ventricle and allow it to pump more forcefully. What controls the localization and development of these structures?
Part 3: GeneticCompensation: Stainier explains why gene mutation via antisense oligos may result in a more severe phenotype than mutation via CRISPR-Cas9 or other gene editing tools.
https://www.ibiology.org/ibioseminars/genetic-compensation.htmlTalk Overview:
How does a fertilized egg develop into a complex multicellular organism such as a fly, mouse or human? During zebrafish heart development, for example, cells must proliferate, differentiate, move and come together to form a complex organ. Didier Stainier explains that zebrafish are an excellent model organism in which to address this question because their eggs are externally fertilized, they produce many offspring and the embryos and larvae are translucent. In addition, specific cells can be fluorescently labelled making it easier to image organ development in live fish. Taking advantage of these characteristics, Stainier and his colleagues performed large forward genetic screens to look for mutants in zebrafish heart development. Their findings provide insight into the evolution and development of the vertebrate heart.
In his second lecture, Stainier describes work from his lab investigating the formation of trabeculae in zebrafish hearts. Trabeculae are multicellular protrusions into the lumen of the ventricle that allow the heart to increase in muscle mass and thus pump more forcefully. Interestingly, trabeculae form only in the ventricle, not in the atrium, and only on the outer curvature of the ventricular lumen. For trabeculae to form, cardiomyocytes must delaminate from the outer layer of muscle cells and proliferate in the lumen. Stainier discusses how his lab identified factors regulating this process including the important roles of blood flow and contractility.
Genefunction in zebrafish has been investigated by 1) randomly mutagenizing the genome, 2) knocking down genes with antisense oligos or 3) more recently, by specifically mutating a gene of interest with gene editing tools. Interestingly, phenotypes obtained by antisense knockdown are often more severe or different than those obtained by gene knockout. In his last lecture, Stainier presents work from his lab that compares knockdown vs knockout of the egfl7 gene in zebrafish (causing severe vs mild vascular defects) and asks why this difference in phenotypes occurs. He walks us through the experiments which show that in the case of egfl7, and numerous other genes, gene knockout effects are compensated by upregulated transcription of paralogous or related genes. This finding raises many questions about how this phenomenon occurs and Stainier’s group continues to investigate this and related questions.
Speaker Biography:
Dr. Didier Stainier is a Director (Principal Investigator) in the Department of Developmental Genetics at the Max Planck Institute for Heart and Lung Research (MPI-HLR), in Bad Nauheim, Germany. His lab uses the zebrafish as a model to study development of the cardiovascular system and pancreas, and the mouse as a model for lung development. Prior to moving to the MPI-HLR, Stainier was Professor of Biochemistry and Biophysics at the University of California, San Francisco from 1995-2012.
Stainier received his PhD in Biochemistry and Molecular Biology from Harvard University where he worked in Wally Gilbert’s lab. As a post-doctoral fellow, Stainier moved to Mark Fishman’s lab at Massachusetts General Hospital where he initiated the studies on zebrafish cardiovascular development and function. Stainier was one of many scientists in Boston and Tübingen who carried out a huge screen for zebrafish mutants in early development and organogenesis. The screen was published in Development in 1996 and remains a useful resource to this day for labs studying fish. Stainier has since published over 200 papers on zebrafish development.
Learn more about Stainier’s research here:
http://www.mpi-hlr.de/en/forschung/dept-iii.html

Expansion of the genetic alphabet to include a third base pair not only has immediate utility for a number of applications, such as site-specific oligonucleotide labeling, but also serves as the foundation for an organism with an expanded genetic code. Toward this goal, we have examined a large number of different unnatural nucleotides bearing mainly hydrophobic nucleobase analogs that pair based on packing and hydrophobic interactions rather than H-bonding.
Optimization based on extensive structure-activity relationship studies and two screens resulted in the identification of a class of unnatural base pairs that are well recognized by DNA and RNA polymerases. More recently, we have engineered E. coli to import the requisite unnatural triphosphates and shown that DNA containing the unnatural base pair is efficiently rep
licated within the cell, resulting in the first semi-synthetic organism that stores increased information in its genome.

Lecture Overview:
Circadian rhythms are an adaptation to the 24 hr day that we experience. Takahashi begins his talk with an historic overview of how the genes controlling circadian clocks were first identified in Drosophila and the cloning tour de force that was required to identify clock genes in mice. He also describes the experiments that resulted in the realization that all cells in the body have a circadian clock, not just cells in the brain.
In part 1B, Takahashi explains that the suprachiasmatic nucleus (SCN) in the brain generates a circadian rhythm of fluctuating body temperature that, in turn, signals to peripheral tissues. Heat shock factor 1 is one of the signaling molecules responsible for communicating the temperature information and resetting peripheral clocks.
In Part 2, Takahashi describes how crossing many mice of different genetic backgrounds allowed his lab to identify several genes that impact the output of the clock gene system through different mechanisms.
Takahashi begins the last part of his presentation with the crystal structures of BMAL and Clock, the two central activators of clock gene transcription. He goes on to describe how his lab showed that BMAL/Clock controls the DNA binding activity of transcriptional regulators of not only cycling genes, but also of basic cell functions such as RNA polymerase 2 occupancy and histone modification.
Speaker Bio:
Joseph Takahashi received his BA in biology from Swarthmore College, his PhD in neuroscience from the University of Oregon, and he was a post-doctoral fellow with MartinZatz at the National Institutes of Mental Health. He then spent 26 years at Northwestern University where he was a faculty member in the Department of Neurobiology and Physiology and in 1997 he became an Investigator of the Howard Hughes Medical Institute. In 2008, Takahashi joined the University of Texas, SouthwesternMedical Center as the Loyd B. Sands Distinguished Chair in Neuroscience.
Using forward genetic screens in mice, Takahashi identified the first mammalian circadian gene "Clock" in 1997. Since then, his lab has gone on to identify and clone numerous circadian genes in both the brain and tissues throughout the body. Takahashi has received numerous awards and honors for his ground-breaking research including election to the National Academy of Sciences.

http://www.ibiology.org/ibioseminars/protein-folding-infectious-disease-cancer.html
In Part 1a, Dr. Lindquist explains the problem of protein folding. Proteins leave the ribosome as long, linear chains of amino acids but they need to fold into complex three dimensional shapes in the extremely crowded environment of the cytoplasm. Since protein misfolding can be disastrous for cells, proteins known as heat shock proteins (HSPs) have evolved to facilitate proper protein folding. Lindquist explains that sometimes the heat shock response becomes unbalanced resulting in human disease. In the case of cancer, HSPs help cancer cells survive many stresses that would typically kill them. In contrast, many neurodegenerative diseases are a result of protein misfolding and aggregation suggesting that, in these diseases, HSPs are not activated when they should be.
Yeast have many of the same cellular processes as humans including a stress response to aid in protein folding and prevent protein aggregation. In Part 1b, Lindquist describes how genetic screens in yeast helped scientists identify mutations that increased the formation of aggregates similar to those found in neurodegenerative diseases. Furthermore a screen in yeast of ~500,000 chemicals identified a number of compounds that prevented protein aggregation. Results from both experiments have since been validated in mice and human neuronal models.
When cells undergo stress, the expression of HSPs increases. In Part 2, Lindquist explains that while most HSPs are expressed only as needed, Hsp90 is expressed in excess. This “buffer” of Hsp90 facilitates the folding of some mutant proteins (such as v-src) that would usually misfold and be degraded by the cell. Thus, Hsp90 potentiates the impact of these mutations. Interestingly, the Hsp90 “buffer” can also act to hide or suppress the impact of other mutations. These “hidden” mutations are found when cells are stressed reducing the pool of available Hsp90. Thus, Hsp90 provides a plausible mechanism for allowing genetic diversity and fluctuating environments to fuel the pace of evolutionary change.
In her last talk, Lindquist focuses on prion proteins. Prions are perhaps best known as the infectious agents in diseases such as mad cow disease. However, Lindquist argues that there are many great things about prions too. They provide a protein-based mechanism of inheritance that allows organisms to develop new traits, quickly and reversibly, and thereby adapt to new environments. Working in yeast, Lindquist and her colleagues were able to identify numerous prion-like proteins that are induced at different levels, depending on the temperature, pH or presence of bacteria. Expression of prions caused heritable, phenotypic changes in the yeast demonstrating that prions are another mechanism by which environmental changes can induce new traits that can be passed onto progeny. As Lindquist says, perhaps it is time to give Lamarck back his dignity.
Speaker Biography:
Susan Lindquist is a member and former Director of the Whitehead Institute for Biomedical Research. She is also a Howard Hughes Medical InstituteInvestigator and Professor of Biology at the Massachusetts Institute of Technology. She received her Ph.D. in biology from Harvard and was a postdoctoral fellow of the American Cancer Society. Lindquist was on the faculty of the University of Chicago for over 20 years before moving to MIT in 2001.
A pioneer in the study of protein folding, Lindquist found that the chaperone Hsp90 potentiates and buffers the effects of genetic variation, fueling evolutionary mechanisms as diverse as malignant transformation and the emergence of drug resistance. Her work established the molecular basis for protein-based mechanisms of inheritance and she demonstrated that Hsp90 and prions each provide distinct but feasible mechanisms of Lamarckian inheritance.
Dr. Lindquist is an elected member of the National Academy of Sciences, the Academy of Medicine and the Royal Society. Her honors also include the Dickson Prize in Medicine, the Otto-Warburg Prize, the Genetics Society of America Medal, the FASEB Excellence in Science Award, the E.B. WilsonMedal, the Vanderbilt Prize for Women’s Excellence in Science and Mentorship and the National Medal of Science.

Watch this webinar on LabRoots at http://www.labroots.com/webinar/id/183
The ability to modulate gene expression at genome scale has revolutionized functional genomics in mammalian cells. A highly effective method to determine gene function is to perform pooled lentiviral screens. Regardless of whether you are looking to knock out gene function using CRISPR-Cas9 and single guide RNAs (sgRNAs) or knock down gene expression using RNAi and short hairpin RNAs (shRNAs), lentiviral-based pooled screens can be used to interrogate hundreds or thousands of gene targets in parallel. These types of screens can answer a variety of questions including identifying genes that regulate cellular responses and signaling pathways or drug target identification. In comparison to arrayed screens that examine a single reagent at a time and require considerable automation and liquid handling, pooled screens do not require automation and therefore can be performed by many research labs. However, pooled library screening presents unique challenges that must be addressed to ensure experimental success.
During this webinar we will discuss considerations and nuances that can lead to success or failure of pooled lentiviral screens. We will present experimental data to highlight many variables that impact pooled screening including size of the pooled library and maintaining fold-representation throughout the experiment. We will also introduce tools that can make these experiments easier to perform and help ensure successful screening. To provide context for technology selection, we will present a comparison of data from two pooled screens, one using sgRNAs and the other using shRNAs. Both screens analyzed the role of kinases in cell viability.

27:59

Spots for Tots - NSW Newborn Screening Program

This video gives users an overview of newborn blood spot screening, covering how and why b...

Spots for Tots - NSW Newborn Screening Program

This video gives users an overview of newborn blood spot screening, covering how and why blood spot tests are done, what disorders are screened for and how newborn screening fits into the public healthcare system. This video also provides information for healthcare practitioners who are involved in the collection of blood spot samples for Newborn Screening.

49:40

Sigma Pooled CRISPR Screening for Functional Genomics

This 30 minute webinar will describe the design and application of pooled CRISPR libraries...

Lecture Overview:
Circadian rhythms are an adaptation to the 24 hr day that we experience. Takahashi begins his talk with an historic overview of how the genes controlling circadian clocks were first identified in Drosophila and the cloning tour de force that was required to identify clock genes in mice. He also describes the experiments that resulted in the realization that all cells in the body have a circadian clock, not just cells in the brain.
In part 1B, Takahashi explains that the suprachiasmatic nucleus (SCN) in the brain generates a circadian rhythm of fluctuating body temperature that, in turn, signals to peripheral tissues. Heat shock factor 1 is one of the signaling molecules responsible for communicating the temperature information and resetting peripheral clocks.
In Part 2, Takahashi describes how crossing many mice of different genetic backgrounds allowed his lab to identify several genes that impact the output of the clock gene system through different mechanisms.
Takahashi begins the last part of his presentation with the crystal structures of BMAL and Clock, the two central activators of clock gene transcription. He goes on to describe how his lab showed that BMAL/Clock controls the DNA binding activity of transcriptional regulators of not only cycling genes, but also of basic cell functions such as RNA polymerase 2 occupancy and histone modification.
Speaker Bio:
Joseph Takahashi received his BA in biology from Swarthmore College, his PhD in neuroscience from the University of Oregon, and he was a post-doctoral fellow with MartinZatz at the National Institutes of Mental Health. He then spent 26 years at Northwestern University where he was a faculty member in the Department of Neurobiology and Physiology and in 1997 he became an Investigator of the Howard Hughes Medical Institute. In 2008, Takahashi joined the University of Texas, SouthwesternMedical Center as the Loyd B. Sands Distinguished Chair in Neuroscience.
Using forward genetic screens in mice, Takahashi identified the first mammalian circadian gene "Clock" in 1997. Since then, his lab has gone on to identify and clone numerous circadian genes in both the brain and tissues throughout the body. Takahashi has received numerous awards and honors for his ground-breaking research including election to the National Academy of Sciences.

Genetic Screens with CRISPR: A New Hope in Functio...

BroadE Workshop: Genetic Screens with GPP 10/16/20...

Haploid genetic screens to uncover the mechanism o...

Cellecta Webinar on RNAi vs CRISPR Screens, May 20...

CRISPR Screening - The What, Why and How...

Didier Stainier (MPI) 3: Genetic Compensation...

Yeast genome-wide screens to assess the genetic la...

Floyd ROMESBERG - A Semi-synthetic Organism with a...

Joseph Takahashi (UT Southwestern/HHMI) Part 2: Ci...

Susan Lindquist (Whitehead, MIT / HHMI) 3: Prions:...

Anja Smith-How to identify key genes with CRISPR C...

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Sigma Pooled CRISPR Screening for Functional Genom...

Joseph Takahashi (UT Southwestern/HHMI) Part 1A: C...

It turns out that a theory explaining how we might detect parallel universes and prediction for the end of the world was proposed and completed by physicist Stephen Hawking shortly before he died ... &nbsp;. According to reports, the work predicts that the universe would eventually end when stars run out of energy ... ....

In another blow to the Trump administration Monday, the US Supreme Court decided Arizona must continue to issue state driver’s licenses to so-called Dreamer immigrants and refused to hear an effort by the state to challenge the Obama-era program that protects hundreds of thousands of young adults brought into the country illegally as children, Reuters reported ... – WN.com. Jack Durschlag....

Britain’s Royal Astronomical Society announced Monday that an object called 1I/2017 (‘Oumuamua) – the first confirmed asteroid known to have journeyed here from outside our solar system – most likely came from from a binary star system, or two stars orbiting a common center of gravity, EarthSky reported ... They looked at how common these star systems are in the galaxy ... ....

Uber announced on Monday that it was pulling all of its self-driving cars from public roads in Arizona and San Francisco, Toronto, and Pittsburgh after a female pedestrian was reportedly killed after being struck by an autonomous Uber vehicle in Tempe, according to The Verge.&nbsp; ... “We are fully cooperating with local authorities in their investigation of this incident.” ... "Some incredibly sad news out of Arizona....

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... of their genetic traits, said Dr ... The HuntsmanCancer Institute said in a release that the idea behind geneticscreening is to help determine the best treatment for each specific patient's cancer, but traditionally only one or two genetic factors could be identified, excluding the possibility of individualized treatment for a majority of patients....

Color is looking to add a new test to its line of genetic testing, this time focusing on hereditary factors that may affect a person’s chance for being prone to cardiovascular complications like arrhythmia and cardiomyopathy ... Color looks to target genes that the American College of Medical Genetics and Genomics identified as high-impact and actionable....

Our biggest clue has come from family studies – particularly those comparing ADHD symptoms in identical and fraternal twins – which have long indicated that ADHD is largely genetic. And recently, groundbreaking research has begun to identify the specific genetic risk factors ......

PORTLAND — Sam Drazin is on a mission to teach students young and old, one classroom at a time, about a rare congenital condition that affects the way the face develops. Treacher Collins syndrome is a is a genetic condition that affects the cheekbones, jaws, ears and eyelids, and often cause problems with breathing, swallowing, chewing, hearing and speech. It is present in about one in 50,000 newborns worldwide ... ....

Two new studies use new models to identify genetic targets and test promising treatments in adrenal cancer. One patient was treated with the immunotherapy pembrolizumab and now more than a year after starting treatment remains on the drug with 77 percent tumor reduction and no new metastases. <!-- more --> ... ....

https.//www.thetelegraph.com/news/article/Centerstone-to-host-free-screening-of-12765829.php. Centerstone to host free screening of ‘Suicide... Centerstone to host free screening of ‘Suicide ... EDWARDSVILLE – Centerstone will host a free screening of the film “Suicide ... Hines will attend the screening on April 9 to introduce the film and meet with event sponsors....

The event’s speaker, Pulitzer Prize-winning author and oncologist Siddhartha Mukherjee, said the student film was a fitting choice for the lecture ... His talk focused on cancer specifically and highlighted recent developments in cancer research and treatment such as the use of artificial intelligence, genetic manipulation and precision medicine ... ....

Apple is developing its own MicroLED device displays and has made small numbers of the screens for testing, Bloomberg reported, in a move that could hurt Asian display suppliers to the US tech giant over the long-term ...Screens using MicroLED are thinner, brighter, use less power and are more durable than the OLED displays that are increasingly being adopted for a variety of smart devices....

Whereas before, you had to look at the device and the computer screen when entering the pin and confirming transactions, you can now unlock it and perform all commands directly from the screen. This is definitely an improved experience since you no longer have to look back and forth between screens when accessing your wallet. The color screen is, of course, also a step-up from the previous model....